SNP Links for Protein (Select 768018115) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 741

<< First< Prev

Page of 38

Select item 14893925361.

rs1489392536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41352671 (GRCh38)
20:39981311 (GRCh37)
Canonical SPDI:: NC_000020.11:41352670:C:T
Gene:: LPIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.41352671C>T, NC_000020.10:g.39981311C>T, XM_011528997.4:c.1432C>T, XM_011528997.3:c.1432C>T, XM_011528997.2:c.1432C>T, XM_011528997.1:c.1432C>T, XM_011528999.4:c.1432C>T, XM_011528999.3:c.1432C>T, XM_011528999.2:c.1432C>T, XM_011528999.1:c.1432C>T, XM_011528998.4:c.1432C>T, XM_011528998.3:c.1432C>T, XM_011528998.2:c.1432C>T, XM_011528998.1:c.1432C>T, XM_011529002.4:c.1036C>T, XM_011529002.3:c.1036C>T, XM_011529002.2:c.1036C>T, XM_011529002.1:c.1036C>T, XM_011528996.3:c.1432C>T, XM_011528996.2:c.1432C>T, XM_011528996.1:c.1432C>T, XM_011529000.3:c.1429C>T, XM_011529000.2:c.1429C>T, XM_011529000.1:c.1429C>T, NM_022896.3:c.1429C>T, NM_022896.2:c.1429C>T, NM_022896.1:c.1429C>T, XM_011529001.3:c.1432C>T, XM_011529001.2:c.1432C>T, XM_011529001.1:c.1432C>T, XR_936610.3:n.1622C>T, XR_936610.2:n.1588C>T, XR_936610.1:n.1588C>T, XM_011529005.3:c.1432C>T, XM_011529005.2:c.1432C>T, XM_011529005.1:c.1432C>T, XM_006723863.3:c.*89C>T, XM_006723863.2:c.*89C>T, XM_011529006.3:c.*57C>T, XM_011529006.2:c.*57C>T, XM_011529006.1:c.*57C>T, XM_005260516.3:c.*2C>T, XM_005260516.2:c.*2C>T, XM_005260516.1:c.*2C>T, NM_001301860.2:c.1432C>T, NM_001301860.1:c.1432C>T, NR_126051.2:n.1622C>T, NR_126051.1:n.1590C>T, XM_011529003.2:c.1432C>T, XM_011529003.1:c.1432C>T, XM_011529004.2:c.1432C>T, XM_011529004.1:c.1432C>T, XR_430311.2:n.1622C>T, XR_430311.1:n.1588C>T, XM_047440384.1:c.1432C>T, XM_047440386.1:c.1429C>T, XM_047440383.1:c.1429C>T, XM_047440385.1:c.1432C>T, XM_047440387.1:c.1429C>T, XM_047440388.1:c.1429C>T, XR_007067476.1:n.1622C>T, XM_047440389.1:c.1432C>T, XP_011527299.1:p.Pro478Ser, XP_011527301.1:p.Pro478Ser, XP_011527300.1:p.Pro478Ser, XP_011527304.1:p.Pro346Ser, XP_011527298.1:p.Pro478Ser, XP_011527302.1:p.Pro477Ser, NP_075047.1:p.Pro477Ser, XP_011527303.1:p.Pro478Ser, XP_011527307.1:p.Pro478Ser, NP_001288789.1:p.Pro478Ser, XP_011527305.1:p.Pro478Ser, XP_011527306.1:p.Pro478Ser, XP_047296340.1:p.Pro478Ser, XP_047296342.1:p.Pro477Ser, XP_047296339.1:p.Pro477Ser, XP_047296341.1:p.Pro478Ser, XP_047296343.1:p.Pro477Ser, XP_047296344.1:p.Pro477Ser, XP_047296345.1:p.Pro478Ser

Select item 14893441862.

rs1489344186 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:41348631 (GRCh38)
20:39977271 (GRCh37)
Canonical SPDI:: NC_000020.11:41348630:CCC:CC
Gene:: LPIN3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41348633del, NC_000020.10:g.39977273del, XM_011528997.4:c.303del, XM_011528997.3:c.303del, XM_011528997.2:c.303del, XM_011528997.1:c.303del, XM_011528999.4:c.303del, XM_011528999.3:c.303del, XM_011528999.2:c.303del, XM_011528999.1:c.303del, XM_011528998.4:c.303del, XM_011528998.3:c.303del, XM_011528998.2:c.303del, XM_011528998.1:c.303del, XM_011529002.4:c.-94del, XM_011529002.3:c.-94del, XM_011529002.2:c.-94del, XM_011529002.1:c.-94del, XM_011528996.3:c.303del, XM_011528996.2:c.303del, XM_011528996.1:c.303del, XM_011529000.3:c.303del, XM_011529000.2:c.303del, XM_011529000.1:c.303del, NM_022896.3:c.303del, NM_022896.2:c.303del, NM_022896.1:c.303del, XM_011529001.3:c.303del, XM_011529001.2:c.303del, XM_011529001.1:c.303del, XR_936610.3:n.493del, XR_936610.2:n.459del, XR_936610.1:n.459del, XM_011529005.3:c.303del, XM_011529005.2:c.303del, XM_011529005.1:c.303del, XM_006723863.3:c.303del, XM_006723863.2:c.303del, XM_006723863.1:c.303del, XM_011529006.3:c.303del, XM_011529006.2:c.303del, XM_011529006.1:c.303del, XM_005260516.3:c.303del, XM_005260516.2:c.303del, XM_005260516.1:c.303del, NM_001301860.2:c.303del, NM_001301860.1:c.303del, NR_126051.2:n.493del, NR_126051.1:n.461del, XM_011529003.2:c.303del, XM_011529003.1:c.303del, XM_011529004.2:c.303del, XM_011529004.1:c.303del, XR_430311.2:n.493del, XR_430311.1:n.459del, XM_047440384.1:c.303del, XM_047440386.1:c.303del, XM_047440383.1:c.303del, XM_047440385.1:c.303del, XM_047440387.1:c.303del, XM_047440388.1:c.303del, XR_007067476.1:n.493del, XM_047440389.1:c.303del, XP_011527299.1:p.Gly102fs, XP_011527301.1:p.Gly102fs, XP_011527300.1:p.Gly102fs, XP_011527298.1:p.Gly102fs, XP_011527302.1:p.Gly102fs, NP_075047.1:p.Gly102fs, XP_011527303.1:p.Gly102fs, XP_011527307.1:p.Gly102fs, XP_006723926.1:p.Gly102fs, XP_011527308.1:p.Gly102fs, XP_005260573.1:p.Gly102fs, NP_001288789.1:p.Gly102fs, XP_011527305.1:p.Gly102fs, XP_011527306.1:p.Gly102fs, XP_047296340.1:p.Gly102fs, XP_047296342.1:p.Gly102fs, XP_047296339.1:p.Gly102fs, XP_047296341.1:p.Gly102fs, XP_047296343.1:p.Gly102fs, XP_047296344.1:p.Gly102fs, XP_047296345.1:p.Gly102fs

Select item 14884656673.

rs1488465667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:41351856 (GRCh38)
20:39980496 (GRCh37)
Canonical SPDI:: NC_000020.11:41351855:G:C
Gene:: LPIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41351856G>C, NC_000020.10:g.39980496G>C, XM_011528997.4:c.1141G>C, XM_011528997.3:c.1141G>C, XM_011528997.2:c.1141G>C, XM_011528997.1:c.1141G>C, XM_011528999.4:c.1141G>C, XM_011528999.3:c.1141G>C, XM_011528999.2:c.1141G>C, XM_011528999.1:c.1141G>C, XM_011528998.4:c.1141G>C, XM_011528998.3:c.1141G>C, XM_011528998.2:c.1141G>C, XM_011528998.1:c.1141G>C, XM_011529002.4:c.745G>C, XM_011529002.3:c.745G>C, XM_011529002.2:c.745G>C, XM_011529002.1:c.745G>C, XM_011528996.3:c.1141G>C, XM_011528996.2:c.1141G>C, XM_011528996.1:c.1141G>C, XM_011529000.3:c.1138G>C, XM_011529000.2:c.1138G>C, XM_011529000.1:c.1138G>C, NM_022896.3:c.1138G>C, NM_022896.2:c.1138G>C, NM_022896.1:c.1138G>C, XM_011529001.3:c.1141G>C, XM_011529001.2:c.1141G>C, XM_011529001.1:c.1141G>C, XR_936610.3:n.1331G>C, XR_936610.2:n.1297G>C, XR_936610.1:n.1297G>C, XM_011529005.3:c.1141G>C, XM_011529005.2:c.1141G>C, XM_011529005.1:c.1141G>C, XM_006723863.3:c.1141G>C, XM_006723863.2:c.1141G>C, XM_006723863.1:c.1141G>C, XM_011529006.3:c.1141G>C, XM_011529006.2:c.1141G>C, XM_011529006.1:c.1141G>C, XM_005260516.3:c.1141G>C, XM_005260516.2:c.1141G>C, XM_005260516.1:c.1141G>C, NM_001301860.2:c.1141G>C, NM_001301860.1:c.1141G>C, NR_126051.2:n.1331G>C, NR_126051.1:n.1299G>C, XM_011529003.2:c.1141G>C, XM_011529003.1:c.1141G>C, XM_011529004.2:c.1141G>C, XM_011529004.1:c.1141G>C, XR_430311.2:n.1331G>C, XR_430311.1:n.1297G>C, XM_047440384.1:c.1141G>C, XM_047440386.1:c.1138G>C, XM_047440383.1:c.1138G>C, XM_047440385.1:c.1141G>C, XM_047440387.1:c.1138G>C, XM_047440388.1:c.1138G>C, XR_007067476.1:n.1331G>C, XM_047440389.1:c.1141G>C, XP_011527299.1:p.Asp381His, XP_011527301.1:p.Asp381His, XP_011527300.1:p.Asp381His, XP_011527304.1:p.Asp249His, XP_011527298.1:p.Asp381His, XP_011527302.1:p.Asp380His, NP_075047.1:p.Asp380His, XP_011527303.1:p.Asp381His, XP_011527307.1:p.Asp381His, XP_006723926.1:p.Asp381His, XP_011527308.1:p.Asp381His, XP_005260573.1:p.Asp381His, NP_001288789.1:p.Asp381His, XP_011527305.1:p.Asp381His, XP_011527306.1:p.Asp381His, XP_047296340.1:p.Asp381His, XP_047296342.1:p.Asp380His, XP_047296339.1:p.Asp380His, XP_047296341.1:p.Asp381His, XP_047296343.1:p.Asp380His, XP_047296344.1:p.Asp380His, XP_047296345.1:p.Asp381His

Select item 14875093334.

rs1487509333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:41354685 (GRCh38)
20:39983325 (GRCh37)
Canonical SPDI:: NC_000020.11:41354684:A:G
Gene:: LPIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41354685A>G, NC_000020.10:g.39983325A>G, XM_011528997.4:c.1571A>G, XM_011528997.3:c.1571A>G, XM_011528997.2:c.1571A>G, XM_011528997.1:c.1571A>G, XM_011528999.4:c.1571A>G, XM_011528999.3:c.1571A>G, XM_011528999.2:c.1571A>G, XM_011528999.1:c.1571A>G, XM_011528998.4:c.1571A>G, XM_011528998.3:c.1571A>G, XM_011528998.2:c.1571A>G, XM_011528998.1:c.1571A>G, XM_011529002.4:c.1175A>G, XM_011529002.3:c.1175A>G, XM_011529002.2:c.1175A>G, XM_011529002.1:c.1175A>G, XM_011528996.3:c.1571A>G, XM_011528996.2:c.1571A>G, XM_011528996.1:c.1571A>G, XM_011529000.3:c.1568A>G, XM_011529000.2:c.1568A>G, XM_011529000.1:c.1568A>G, NM_022896.3:c.1568A>G, NM_022896.2:c.1568A>G, NM_022896.1:c.1568A>G, XM_011529001.3:c.1571A>G, XM_011529001.2:c.1571A>G, XM_011529001.1:c.1571A>G, XR_936610.3:n.1761A>G, XR_936610.2:n.1727A>G, XR_936610.1:n.1727A>G, XM_011529005.3:c.1571A>G, XM_011529005.2:c.1571A>G, XM_011529005.1:c.1571A>G, NM_001301860.2:c.1571A>G, NM_001301860.1:c.1571A>G, NR_126051.2:n.1761A>G, NR_126051.1:n.1729A>G, XM_011529003.2:c.1571A>G, XM_011529003.1:c.1571A>G, XM_011529004.2:c.1571A>G, XM_011529004.1:c.1571A>G, XR_430311.2:n.1761A>G, XR_430311.1:n.1727A>G, XM_047440384.1:c.1571A>G, XM_047440386.1:c.1568A>G, XM_047440383.1:c.1568A>G, XM_047440385.1:c.1571A>G, XM_047440387.1:c.1568A>G, XM_047440388.1:c.1568A>G, XR_007067476.1:n.1761A>G, XM_047440389.1:c.1571A>G, XP_011527299.1:p.Lys524Arg, XP_011527301.1:p.Lys524Arg, XP_011527300.1:p.Lys524Arg, XP_011527304.1:p.Lys392Arg, XP_011527298.1:p.Lys524Arg, XP_011527302.1:p.Lys523Arg, NP_075047.1:p.Lys523Arg, XP_011527303.1:p.Lys524Arg, XP_011527307.1:p.Lys524Arg, NP_001288789.1:p.Lys524Arg, XP_011527305.1:p.Lys524Arg, XP_011527306.1:p.Lys524Arg, XP_047296340.1:p.Lys524Arg, XP_047296342.1:p.Lys523Arg, XP_047296339.1:p.Lys523Arg, XP_047296341.1:p.Lys524Arg, XP_047296343.1:p.Lys523Arg, XP_047296344.1:p.Lys523Arg, XP_047296345.1:p.Lys524Arg

Select item 14845433815.

rs1484543381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:41354834 (GRCh38)
20:39983474 (GRCh37)
Canonical SPDI:: NC_000020.11:41354833:G:A
Gene:: LPIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41354834G>A, NC_000020.10:g.39983474G>A, XM_011528997.4:c.1638G>A, XM_011528997.3:c.1638G>A, XM_011528997.2:c.1638G>A, XM_011528997.1:c.1638G>A, XM_011528999.4:c.1638G>A, XM_011528999.3:c.1638G>A, XM_011528999.2:c.1638G>A, XM_011528999.1:c.1638G>A, XM_011528998.4:c.1638G>A, XM_011528998.3:c.1638G>A, XM_011528998.2:c.1638G>A, XM_011528998.1:c.1638G>A, XM_011529002.4:c.1242G>A, XM_011529002.3:c.1242G>A, XM_011529002.2:c.1242G>A, XM_011529002.1:c.1242G>A, XM_011528996.3:c.1638G>A, XM_011528996.2:c.1638G>A, XM_011528996.1:c.1638G>A, XM_011529000.3:c.1635G>A, XM_011529000.2:c.1635G>A, XM_011529000.1:c.1635G>A, NM_022896.3:c.1635G>A, NM_022896.2:c.1635G>A, NM_022896.1:c.1635G>A, XM_011529001.3:c.1638G>A, XM_011529001.2:c.1638G>A, XM_011529001.1:c.1638G>A, XR_936610.3:n.1828G>A, XR_936610.2:n.1794G>A, XR_936610.1:n.1794G>A, XM_011529005.3:c.1638G>A, XM_011529005.2:c.1638G>A, XM_011529005.1:c.1638G>A, NM_001301860.2:c.1638G>A, NM_001301860.1:c.1638G>A, NR_126051.2:n.1823G>A, NR_126051.1:n.1791G>A, XM_011529003.2:c.1638G>A, XM_011529003.1:c.1638G>A, XM_011529004.2:c.1638G>A, XM_011529004.1:c.1638G>A, XR_430311.2:n.1828G>A, XR_430311.1:n.1794G>A, XM_047440384.1:c.1638G>A, XM_047440386.1:c.1635G>A, XM_047440383.1:c.1635G>A, XM_047440385.1:c.1638G>A, XM_047440387.1:c.1635G>A, XM_047440388.1:c.1635G>A, XR_007067476.1:n.1828G>A, XM_047440389.1:c.1638G>A

Select item 14819276036.

rs1481927603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:41348703 (GRCh38)
20:39977343 (GRCh37)
Canonical SPDI:: NC_000020.11:41348702:G:A
Gene:: LPIN3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41348703G>A, NC_000020.10:g.39977343G>A, XM_011528997.4:c.373G>A, XM_011528997.3:c.373G>A, XM_011528997.2:c.373G>A, XM_011528997.1:c.373G>A, XM_011528999.4:c.373G>A, XM_011528999.3:c.373G>A, XM_011528999.2:c.373G>A, XM_011528999.1:c.373G>A, XM_011528998.4:c.373G>A, XM_011528998.3:c.373G>A, XM_011528998.2:c.373G>A, XM_011528998.1:c.373G>A, XM_011529002.4:c.-24G>A, XM_011529002.3:c.-24G>A, XM_011529002.2:c.-24G>A, XM_011529002.1:c.-24G>A, XM_011528996.3:c.373G>A, XM_011528996.2:c.373G>A, XM_011528996.1:c.373G>A, XM_011529000.3:c.373G>A, XM_011529000.2:c.373G>A, XM_011529000.1:c.373G>A, NM_022896.3:c.373G>A, NM_022896.2:c.373G>A, NM_022896.1:c.373G>A, XM_011529001.3:c.373G>A, XM_011529001.2:c.373G>A, XM_011529001.1:c.373G>A, XR_936610.3:n.563G>A, XR_936610.2:n.529G>A, XR_936610.1:n.529G>A, XM_011529005.3:c.373G>A, XM_011529005.2:c.373G>A, XM_011529005.1:c.373G>A, XM_006723863.3:c.373G>A, XM_006723863.2:c.373G>A, XM_006723863.1:c.373G>A, XM_011529006.3:c.373G>A, XM_011529006.2:c.373G>A, XM_011529006.1:c.373G>A, XM_005260516.3:c.373G>A, XM_005260516.2:c.373G>A, XM_005260516.1:c.373G>A, NM_001301860.2:c.373G>A, NM_001301860.1:c.373G>A, NR_126051.2:n.563G>A, NR_126051.1:n.531G>A, XM_011529003.2:c.373G>A, XM_011529003.1:c.373G>A, XM_011529004.2:c.373G>A, XM_011529004.1:c.373G>A, XR_430311.2:n.563G>A, XR_430311.1:n.529G>A, XM_047440384.1:c.373G>A, XM_047440386.1:c.373G>A, XM_047440383.1:c.373G>A, XM_047440385.1:c.373G>A, XM_047440387.1:c.373G>A, XM_047440388.1:c.373G>A, XR_007067476.1:n.563G>A, XM_047440389.1:c.373G>A, XP_011527299.1:p.Ala125Thr, XP_011527301.1:p.Ala125Thr, XP_011527300.1:p.Ala125Thr, XP_011527298.1:p.Ala125Thr, XP_011527302.1:p.Ala125Thr, NP_075047.1:p.Ala125Thr, XP_011527303.1:p.Ala125Thr, XP_011527307.1:p.Ala125Thr, XP_006723926.1:p.Ala125Thr, XP_011527308.1:p.Ala125Thr, XP_005260573.1:p.Ala125Thr, NP_001288789.1:p.Ala125Thr, XP_011527305.1:p.Ala125Thr, XP_011527306.1:p.Ala125Thr, XP_047296340.1:p.Ala125Thr, XP_047296342.1:p.Ala125Thr, XP_047296339.1:p.Ala125Thr, XP_047296341.1:p.Ala125Thr, XP_047296343.1:p.Ala125Thr, XP_047296344.1:p.Ala125Thr, XP_047296345.1:p.Ala125Thr

Select item 14801916397.

rs1480191639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:41347620 (GRCh38)
20:39976260 (GRCh37)
Canonical SPDI:: NC_000020.11:41347619:C:G
Gene:: LPIN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000671/3 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000020.11:g.41347620C>G, NC_000020.10:g.39976260C>G, XM_011528997.4:c.261C>G, XM_011528997.3:c.261C>G, XM_011528997.2:c.261C>G, XM_011528997.1:c.261C>G, XM_011528999.4:c.261C>G, XM_011528999.3:c.261C>G, XM_011528999.2:c.261C>G, XM_011528999.1:c.261C>G, XM_011528998.4:c.261C>G, XM_011528998.3:c.261C>G, XM_011528998.2:c.261C>G, XM_011528998.1:c.261C>G, XM_011528996.3:c.261C>G, XM_011528996.2:c.261C>G, XM_011528996.1:c.261C>G, XM_011529000.3:c.261C>G, XM_011529000.2:c.261C>G, XM_011529000.1:c.261C>G, NM_022896.3:c.261C>G, NM_022896.2:c.261C>G, NM_022896.1:c.261C>G, XM_011529001.3:c.261C>G, XM_011529001.2:c.261C>G, XM_011529001.1:c.261C>G, XR_936610.3:n.451C>G, XR_936610.2:n.417C>G, XR_936610.1:n.417C>G, XM_011529005.3:c.261C>G, XM_011529005.2:c.261C>G, XM_011529005.1:c.261C>G, XM_006723863.3:c.261C>G, XM_006723863.2:c.261C>G, XM_006723863.1:c.261C>G, XM_011529006.3:c.261C>G, XM_011529006.2:c.261C>G, XM_011529006.1:c.261C>G, XM_005260516.3:c.261C>G, XM_005260516.2:c.261C>G, XM_005260516.1:c.261C>G, NM_001301860.2:c.261C>G, NM_001301860.1:c.261C>G, NR_126051.2:n.451C>G, NR_126051.1:n.419C>G, XM_011529003.2:c.261C>G, XM_011529003.1:c.261C>G, XM_011529004.2:c.261C>G, XM_011529004.1:c.261C>G, XR_430311.2:n.451C>G, XR_430311.1:n.417C>G, XM_047440384.1:c.261C>G, XM_047440386.1:c.261C>G, XM_047440383.1:c.261C>G, XM_047440385.1:c.261C>G, XM_047440387.1:c.261C>G, XM_047440388.1:c.261C>G, XR_007067476.1:n.451C>G, XM_047440389.1:c.261C>G, XP_011527299.1:p.Phe87Leu, XP_011527301.1:p.Phe87Leu, XP_011527300.1:p.Phe87Leu, XP_011527298.1:p.Phe87Leu, XP_011527302.1:p.Phe87Leu, NP_075047.1:p.Phe87Leu, XP_011527303.1:p.Phe87Leu, XP_011527307.1:p.Phe87Leu, XP_006723926.1:p.Phe87Leu, XP_011527308.1:p.Phe87Leu, XP_005260573.1:p.Phe87Leu, NP_001288789.1:p.Phe87Leu, XP_011527305.1:p.Phe87Leu, XP_011527306.1:p.Phe87Leu, XP_047296340.1:p.Phe87Leu, XP_047296342.1:p.Phe87Leu, XP_047296339.1:p.Phe87Leu, XP_047296341.1:p.Phe87Leu, XP_047296343.1:p.Phe87Leu, XP_047296344.1:p.Phe87Leu, XP_047296345.1:p.Phe87Leu

Select item 14779452418.

rs1477945241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:41345891 (GRCh38)
20:39974531 (GRCh37)
Canonical SPDI:: NC_000020.11:41345890:G:A
Gene:: LPIN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41345891G>A, NC_000020.10:g.39974531G>A, XM_011528997.4:c.88G>A, XM_011528997.3:c.88G>A, XM_011528997.2:c.88G>A, XM_011528997.1:c.88G>A, XM_011528999.4:c.88G>A, XM_011528999.3:c.88G>A, XM_011528999.2:c.88G>A, XM_011528999.1:c.88G>A, XM_011528998.4:c.88G>A, XM_011528998.3:c.88G>A, XM_011528998.2:c.88G>A, XM_011528998.1:c.88G>A, XM_011528996.3:c.88G>A, XM_011528996.2:c.88G>A, XM_011528996.1:c.88G>A, XM_011529000.3:c.88G>A, XM_011529000.2:c.88G>A, XM_011529000.1:c.88G>A, NM_022896.3:c.88G>A, NM_022896.2:c.88G>A, NM_022896.1:c.88G>A, XM_011529001.3:c.88G>A, XM_011529001.2:c.88G>A, XM_011529001.1:c.88G>A, XR_936610.3:n.278G>A, XR_936610.2:n.244G>A, XR_936610.1:n.244G>A, XM_011529005.3:c.88G>A, XM_011529005.2:c.88G>A, XM_011529005.1:c.88G>A, XM_006723863.3:c.88G>A, XM_006723863.2:c.88G>A, XM_006723863.1:c.88G>A, XM_011529006.3:c.88G>A, XM_011529006.2:c.88G>A, XM_011529006.1:c.88G>A, XM_005260516.3:c.88G>A, XM_005260516.2:c.88G>A, XM_005260516.1:c.88G>A, NM_001301860.2:c.88G>A, NM_001301860.1:c.88G>A, NR_126051.2:n.278G>A, NR_126051.1:n.246G>A, XM_011529003.2:c.88G>A, XM_011529003.1:c.88G>A, XM_011529004.2:c.88G>A, XM_011529004.1:c.88G>A, XR_430311.2:n.278G>A, XR_430311.1:n.244G>A, XM_047440384.1:c.88G>A, XM_047440386.1:c.88G>A, XM_047440383.1:c.88G>A, XM_047440385.1:c.88G>A, XM_047440387.1:c.88G>A, XM_047440388.1:c.88G>A, XR_007067476.1:n.278G>A, XM_047440389.1:c.88G>A, XP_011527299.1:p.Gly30Ser, XP_011527301.1:p.Gly30Ser, XP_011527300.1:p.Gly30Ser, XP_011527298.1:p.Gly30Ser, XP_011527302.1:p.Gly30Ser, NP_075047.1:p.Gly30Ser, XP_011527303.1:p.Gly30Ser, XP_011527307.1:p.Gly30Ser, XP_006723926.1:p.Gly30Ser, XP_011527308.1:p.Gly30Ser, XP_005260573.1:p.Gly30Ser, NP_001288789.1:p.Gly30Ser, XP_011527305.1:p.Gly30Ser, XP_011527306.1:p.Gly30Ser, XP_047296340.1:p.Gly30Ser, XP_047296342.1:p.Gly30Ser, XP_047296339.1:p.Gly30Ser, XP_047296341.1:p.Gly30Ser, XP_047296343.1:p.Gly30Ser, XP_047296344.1:p.Gly30Ser, XP_047296345.1:p.Gly30Ser

Select item 14766432459.

rs1476643245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:41357412 (GRCh38)
20:39986052 (GRCh37)
Canonical SPDI:: NC_000020.11:41357411:C:A
Gene:: LPIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41357412C>A, NC_000020.10:g.39986052C>A, XM_011528997.4:c.2007C>A, XM_011528997.3:c.2007C>A, XM_011528997.2:c.2007C>A, XM_011528997.1:c.2007C>A, XM_011528999.4:c.2007C>A, XM_011528999.3:c.2007C>A, XM_011528999.2:c.2007C>A, XM_011528999.1:c.2007C>A, XM_011528998.4:c.2007C>A, XM_011528998.3:c.2007C>A, XM_011528998.2:c.2007C>A, XM_011528998.1:c.2007C>A, XM_011529002.4:c.1611C>A, XM_011529002.3:c.1611C>A, XM_011529002.2:c.1611C>A, XM_011529002.1:c.1611C>A, XM_011528996.3:c.2007C>A, XM_011528996.2:c.2007C>A, XM_011528996.1:c.2007C>A, XM_011529000.3:c.2004C>A, XM_011529000.2:c.2004C>A, XM_011529000.1:c.2004C>A, NM_022896.3:c.2004C>A, NM_022896.2:c.2004C>A, NM_022896.1:c.2004C>A, XM_011529001.3:c.2007C>A, XM_011529001.2:c.2007C>A, XM_011529001.1:c.2007C>A, XR_936610.3:n.2197C>A, XR_936610.2:n.2163C>A, XR_936610.1:n.2163C>A, XM_011529005.3:c.2007C>A, XM_011529005.2:c.2007C>A, XM_011529005.1:c.2007C>A, NM_001301860.2:c.2007C>A, NM_001301860.1:c.2007C>A, NR_126051.2:n.2192C>A, NR_126051.1:n.2160C>A, XM_011529003.2:c.2007C>A, XM_011529003.1:c.2007C>A, XM_011529004.2:c.2007C>A, XM_011529004.1:c.2007C>A, XR_430311.2:n.2197C>A, XR_430311.1:n.2163C>A, XM_047440384.1:c.2007C>A, XM_047440386.1:c.2004C>A, XM_047440383.1:c.2004C>A, XM_047440385.1:c.2007C>A, XM_047440387.1:c.2004C>A, XM_047440388.1:c.2004C>A, XR_007067476.1:n.2197C>A, XM_047440389.1:c.2007C>A, XP_011527299.1:p.His669Gln, XP_011527301.1:p.His669Gln, XP_011527300.1:p.His669Gln, XP_011527304.1:p.His537Gln, XP_011527298.1:p.His669Gln, XP_011527302.1:p.His668Gln, NP_075047.1:p.His668Gln, XP_011527303.1:p.His669Gln, XP_011527307.1:p.His669Gln, NP_001288789.1:p.His669Gln, XP_011527305.1:p.His669Gln, XP_011527306.1:p.His669Gln, XP_047296340.1:p.His669Gln, XP_047296342.1:p.His668Gln, XP_047296339.1:p.His668Gln, XP_047296341.1:p.His669Gln, XP_047296343.1:p.His668Gln, XP_047296344.1:p.His668Gln, XP_047296345.1:p.His669Gln

Select item 147460085010.

rs1474600850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:41350108 (GRCh38)
20:39978748 (GRCh37)
Canonical SPDI:: NC_000020.11:41350107:G:A,NC_000020.11:41350107:G:C
Gene:: LPIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.41350108G>A, NC_000020.11:g.41350108G>C, NC_000020.10:g.39978748G>A, NC_000020.10:g.39978748G>C, XM_011528997.4:c.816G>A, XM_011528997.4:c.816G>C, XM_011528997.3:c.816G>A, XM_011528997.3:c.816G>C, XM_011528997.2:c.816G>A, XM_011528997.2:c.816G>C, XM_011528997.1:c.816G>A, XM_011528997.1:c.816G>C, XM_011528999.4:c.816G>A, XM_011528999.4:c.816G>C, XM_011528999.3:c.816G>A, XM_011528999.3:c.816G>C, XM_011528999.2:c.816G>A, XM_011528999.2:c.816G>C, XM_011528999.1:c.816G>A, XM_011528999.1:c.816G>C, XM_011528998.4:c.816G>A, XM_011528998.4:c.816G>C, XM_011528998.3:c.816G>A, XM_011528998.3:c.816G>C, XM_011528998.2:c.816G>A, XM_011528998.2:c.816G>C, XM_011528998.1:c.816G>A, XM_011528998.1:c.816G>C, XM_011529002.4:c.420G>A, XM_011529002.4:c.420G>C, XM_011529002.3:c.420G>A, XM_011529002.3:c.420G>C, XM_011529002.2:c.420G>A, XM_011529002.2:c.420G>C, XM_011529002.1:c.420G>A, XM_011529002.1:c.420G>C, XM_011528996.3:c.816G>A, XM_011528996.3:c.816G>C, XM_011528996.2:c.816G>A, XM_011528996.2:c.816G>C, XM_011528996.1:c.816G>A, XM_011528996.1:c.816G>C, XM_011529000.3:c.813G>A, XM_011529000.3:c.813G>C, XM_011529000.2:c.813G>A, XM_011529000.2:c.813G>C, XM_011529000.1:c.813G>A, XM_011529000.1:c.813G>C, NM_022896.3:c.813G>A, NM_022896.3:c.813G>C, NM_022896.2:c.813G>A, NM_022896.2:c.813G>C, NM_022896.1:c.813G>A, NM_022896.1:c.813G>C, XM_011529001.3:c.816G>A, XM_011529001.3:c.816G>C, XM_011529001.2:c.816G>A, XM_011529001.2:c.816G>C, XM_011529001.1:c.816G>A, XM_011529001.1:c.816G>C, XR_936610.3:n.1006G>A, XR_936610.3:n.1006G>C, XR_936610.2:n.972G>A, XR_936610.2:n.972G>C, XR_936610.1:n.972G>A, XR_936610.1:n.972G>C, XM_011529005.3:c.816G>A, XM_011529005.3:c.816G>C, XM_011529005.2:c.816G>A, XM_011529005.2:c.816G>C, XM_011529005.1:c.816G>A, XM_011529005.1:c.816G>C, XM_006723863.3:c.816G>A, XM_006723863.3:c.816G>C, XM_006723863.2:c.816G>A, XM_006723863.2:c.816G>C, XM_006723863.1:c.816G>A, XM_006723863.1:c.816G>C, XM_011529006.3:c.816G>A, XM_011529006.3:c.816G>C, XM_011529006.2:c.816G>A, XM_011529006.2:c.816G>C, XM_011529006.1:c.816G>A, XM_011529006.1:c.816G>C, XM_005260516.3:c.816G>A, XM_005260516.3:c.816G>C, XM_005260516.2:c.816G>A, XM_005260516.2:c.816G>C, XM_005260516.1:c.816G>A, XM_005260516.1:c.816G>C, NM_001301860.2:c.816G>A, NM_001301860.2:c.816G>C, NM_001301860.1:c.816G>A, NM_001301860.1:c.816G>C, NR_126051.2:n.1006G>A, NR_126051.2:n.1006G>C, NR_126051.1:n.974G>A, NR_126051.1:n.974G>C, XM_011529003.2:c.816G>A, XM_011529003.2:c.816G>C, XM_011529003.1:c.816G>A, XM_011529003.1:c.816G>C, XM_011529004.2:c.816G>A, XM_011529004.2:c.816G>C, XM_011529004.1:c.816G>A, XM_011529004.1:c.816G>C, XR_430311.2:n.1006G>A, XR_430311.2:n.1006G>C, XR_430311.1:n.972G>A, XR_430311.1:n.972G>C, XM_047440384.1:c.816G>A, XM_047440384.1:c.816G>C, XM_047440386.1:c.813G>A, XM_047440386.1:c.813G>C, XM_047440383.1:c.813G>A, XM_047440383.1:c.813G>C, XM_047440385.1:c.816G>A, XM_047440385.1:c.816G>C, XM_047440387.1:c.813G>A, XM_047440387.1:c.813G>C, XM_047440388.1:c.813G>A, XM_047440388.1:c.813G>C, XR_007067476.1:n.1006G>A, XR_007067476.1:n.1006G>C, XM_047440389.1:c.816G>A, XM_047440389.1:c.816G>C

Select item 147394494711.

rs1473944947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:41352118 (GRCh38)
20:39980758 (GRCh37)
Canonical SPDI:: NC_000020.11:41352117:G:T
Gene:: LPIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.41352118G>T, NC_000020.10:g.39980758G>T, XM_011528997.4:c.1264G>T, XM_011528997.3:c.1264G>T, XM_011528997.2:c.1264G>T, XM_011528997.1:c.1264G>T, XM_011528999.4:c.1264G>T, XM_011528999.3:c.1264G>T, XM_011528999.2:c.1264G>T, XM_011528999.1:c.1264G>T, XM_011528998.4:c.1264G>T, XM_011528998.3:c.1264G>T, XM_011528998.2:c.1264G>T, XM_011528998.1:c.1264G>T, XM_011529002.4:c.868G>T, XM_011529002.3:c.868G>T, XM_011529002.2:c.868G>T, XM_011529002.1:c.868G>T, XM_011528996.3:c.1264G>T, XM_011528996.2:c.1264G>T, XM_011528996.1:c.1264G>T, XM_011529000.3:c.1261G>T, XM_011529000.2:c.1261G>T, XM_011529000.1:c.1261G>T, NM_022896.3:c.1261G>T, NM_022896.2:c.1261G>T, NM_022896.1:c.1261G>T, XM_011529001.3:c.1264G>T, XM_011529001.2:c.1264G>T, XM_011529001.1:c.1264G>T, XR_936610.3:n.1454G>T, XR_936610.2:n.1420G>T, XR_936610.1:n.1420G>T, XM_011529005.3:c.1264G>T, XM_011529005.2:c.1264G>T, XM_011529005.1:c.1264G>T, XM_006723863.3:c.1264G>T, XM_006723863.2:c.1264G>T, XM_006723863.1:c.1264G>T, XM_011529006.3:c.1264G>T, XM_011529006.2:c.1264G>T, XM_011529006.1:c.1264G>T, XM_005260516.3:c.1264G>T, XM_005260516.2:c.1264G>T, XM_005260516.1:c.1264G>T, NM_001301860.2:c.1264G>T, NM_001301860.1:c.1264G>T, NR_126051.2:n.1454G>T, NR_126051.1:n.1422G>T, XM_011529003.2:c.1264G>T, XM_011529003.1:c.1264G>T, XM_011529004.2:c.1264G>T, XM_011529004.1:c.1264G>T, XR_430311.2:n.1454G>T, XR_430311.1:n.1420G>T, XM_047440384.1:c.1264G>T, XM_047440386.1:c.1261G>T, XM_047440383.1:c.1261G>T, XM_047440385.1:c.1264G>T, XM_047440387.1:c.1261G>T, XM_047440388.1:c.1261G>T, XR_007067476.1:n.1454G>T, XM_047440389.1:c.1264G>T, XP_011527299.1:p.Asp422Tyr, XP_011527301.1:p.Asp422Tyr, XP_011527300.1:p.Asp422Tyr, XP_011527304.1:p.Asp290Tyr, XP_011527298.1:p.Asp422Tyr, XP_011527302.1:p.Asp421Tyr, NP_075047.1:p.Asp421Tyr, XP_011527303.1:p.Asp422Tyr, XP_011527307.1:p.Asp422Tyr, XP_006723926.1:p.Asp422Tyr, XP_011527308.1:p.Asp422Tyr, XP_005260573.1:p.Asp422Tyr, NP_001288789.1:p.Asp422Tyr, XP_011527305.1:p.Asp422Tyr, XP_011527306.1:p.Asp422Tyr, XP_047296340.1:p.Asp422Tyr, XP_047296342.1:p.Asp421Tyr, XP_047296339.1:p.Asp421Tyr, XP_047296341.1:p.Asp422Tyr, XP_047296343.1:p.Asp421Tyr, XP_047296344.1:p.Asp421Tyr, XP_047296345.1:p.Asp422Tyr

Select item 147225634712.

rs1472256347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:41354838 (GRCh38)
20:39983478 (GRCh37)
Canonical SPDI:: NC_000020.11:41354837:A:G
Gene:: LPIN3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41354838A>G, NC_000020.10:g.39983478A>G, XM_011528997.4:c.1642A>G, XM_011528997.3:c.1642A>G, XM_011528997.2:c.1642A>G, XM_011528997.1:c.1642A>G, XM_011528999.4:c.1642A>G, XM_011528999.3:c.1642A>G, XM_011528999.2:c.1642A>G, XM_011528999.1:c.1642A>G, XM_011528998.4:c.1642A>G, XM_011528998.3:c.1642A>G, XM_011528998.2:c.1642A>G, XM_011528998.1:c.1642A>G, XM_011529002.4:c.1246A>G, XM_011529002.3:c.1246A>G, XM_011529002.2:c.1246A>G, XM_011529002.1:c.1246A>G, XM_011528996.3:c.1642A>G, XM_011528996.2:c.1642A>G, XM_011528996.1:c.1642A>G, XM_011529000.3:c.1639A>G, XM_011529000.2:c.1639A>G, XM_011529000.1:c.1639A>G, NM_022896.3:c.1639A>G, NM_022896.2:c.1639A>G, NM_022896.1:c.1639A>G, XM_011529001.3:c.1642A>G, XM_011529001.2:c.1642A>G, XM_011529001.1:c.1642A>G, XR_936610.3:n.1832A>G, XR_936610.2:n.1798A>G, XR_936610.1:n.1798A>G, XM_011529005.3:c.1642A>G, XM_011529005.2:c.1642A>G, XM_011529005.1:c.1642A>G, NM_001301860.2:c.1642A>G, NM_001301860.1:c.1642A>G, NR_126051.2:n.1827A>G, NR_126051.1:n.1795A>G, XM_011529003.2:c.1642A>G, XM_011529003.1:c.1642A>G, XM_011529004.2:c.1642A>G, XM_011529004.1:c.1642A>G, XR_430311.2:n.1832A>G, XR_430311.1:n.1798A>G, XM_047440384.1:c.1642A>G, XM_047440386.1:c.1639A>G, XM_047440383.1:c.1639A>G, XM_047440385.1:c.1642A>G, XM_047440387.1:c.1639A>G, XM_047440388.1:c.1639A>G, XR_007067476.1:n.1832A>G, XM_047440389.1:c.1642A>G, XP_011527299.1:p.Lys548Glu, XP_011527301.1:p.Lys548Glu, XP_011527300.1:p.Lys548Glu, XP_011527304.1:p.Lys416Glu, XP_011527298.1:p.Lys548Glu, XP_011527302.1:p.Lys547Glu, NP_075047.1:p.Lys547Glu, XP_011527303.1:p.Lys548Glu, XP_011527307.1:p.Lys548Glu, NP_001288789.1:p.Lys548Glu, XP_011527305.1:p.Lys548Glu, XP_011527306.1:p.Lys548Glu, XP_047296340.1:p.Lys548Glu, XP_047296342.1:p.Lys547Glu, XP_047296339.1:p.Lys547Glu, XP_047296341.1:p.Lys548Glu, XP_047296343.1:p.Lys547Glu, XP_047296344.1:p.Lys547Glu, XP_047296345.1:p.Lys548Glu

Select item 147155714513.

rs1471557145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41348642 (GRCh38)
20:39977282 (GRCh37)
Canonical SPDI:: NC_000020.11:41348641:C:T
Gene:: LPIN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41348642C>T, NC_000020.10:g.39977282C>T, XM_011528997.4:c.312C>T, XM_011528997.3:c.312C>T, XM_011528997.2:c.312C>T, XM_011528997.1:c.312C>T, XM_011528999.4:c.312C>T, XM_011528999.3:c.312C>T, XM_011528999.2:c.312C>T, XM_011528999.1:c.312C>T, XM_011528998.4:c.312C>T, XM_011528998.3:c.312C>T, XM_011528998.2:c.312C>T, XM_011528998.1:c.312C>T, XM_011529002.4:c.-85C>T, XM_011529002.3:c.-85C>T, XM_011529002.2:c.-85C>T, XM_011529002.1:c.-85C>T, XM_011528996.3:c.312C>T, XM_011528996.2:c.312C>T, XM_011528996.1:c.312C>T, XM_011529000.3:c.312C>T, XM_011529000.2:c.312C>T, XM_011529000.1:c.312C>T, NM_022896.3:c.312C>T, NM_022896.2:c.312C>T, NM_022896.1:c.312C>T, XM_011529001.3:c.312C>T, XM_011529001.2:c.312C>T, XM_011529001.1:c.312C>T, XR_936610.3:n.502C>T, XR_936610.2:n.468C>T, XR_936610.1:n.468C>T, XM_011529005.3:c.312C>T, XM_011529005.2:c.312C>T, XM_011529005.1:c.312C>T, XM_006723863.3:c.312C>T, XM_006723863.2:c.312C>T, XM_006723863.1:c.312C>T, XM_011529006.3:c.312C>T, XM_011529006.2:c.312C>T, XM_011529006.1:c.312C>T, XM_005260516.3:c.312C>T, XM_005260516.2:c.312C>T, XM_005260516.1:c.312C>T, NM_001301860.2:c.312C>T, NM_001301860.1:c.312C>T, NR_126051.2:n.502C>T, NR_126051.1:n.470C>T, XM_011529003.2:c.312C>T, XM_011529003.1:c.312C>T, XM_011529004.2:c.312C>T, XM_011529004.1:c.312C>T, XR_430311.2:n.502C>T, XR_430311.1:n.468C>T, XM_047440384.1:c.312C>T, XM_047440386.1:c.312C>T, XM_047440383.1:c.312C>T, XM_047440385.1:c.312C>T, XM_047440387.1:c.312C>T, XM_047440388.1:c.312C>T, XR_007067476.1:n.502C>T, XM_047440389.1:c.312C>T

Select item 146982140114.

rs1469821401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:41352220 (GRCh38)
20:39980860 (GRCh37)
Canonical SPDI:: NC_000020.11:41352219:G:T
Gene:: LPIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41352220G>T, NC_000020.10:g.39980860G>T, XM_011528997.4:c.1366G>T, XM_011528997.3:c.1366G>T, XM_011528997.2:c.1366G>T, XM_011528997.1:c.1366G>T, XM_011528999.4:c.1366G>T, XM_011528999.3:c.1366G>T, XM_011528999.2:c.1366G>T, XM_011528999.1:c.1366G>T, XM_011528998.4:c.1366G>T, XM_011528998.3:c.1366G>T, XM_011528998.2:c.1366G>T, XM_011528998.1:c.1366G>T, XM_011529002.4:c.970G>T, XM_011529002.3:c.970G>T, XM_011529002.2:c.970G>T, XM_011529002.1:c.970G>T, XM_011528996.3:c.1366G>T, XM_011528996.2:c.1366G>T, XM_011528996.1:c.1366G>T, XM_011529000.3:c.1363G>T, XM_011529000.2:c.1363G>T, XM_011529000.1:c.1363G>T, NM_022896.3:c.1363G>T, NM_022896.2:c.1363G>T, NM_022896.1:c.1363G>T, XM_011529001.3:c.1366G>T, XM_011529001.2:c.1366G>T, XM_011529001.1:c.1366G>T, XR_936610.3:n.1556G>T, XR_936610.2:n.1522G>T, XR_936610.1:n.1522G>T, XM_011529005.3:c.1366G>T, XM_011529005.2:c.1366G>T, XM_011529005.1:c.1366G>T, XM_006723863.3:c.1366G>T, XM_006723863.2:c.1366G>T, XM_006723863.1:c.1366G>T, XM_011529006.3:c.1366G>T, XM_011529006.2:c.1366G>T, XM_011529006.1:c.1366G>T, XM_005260516.3:c.1366G>T, XM_005260516.2:c.1366G>T, XM_005260516.1:c.1366G>T, NM_001301860.2:c.1366G>T, NM_001301860.1:c.1366G>T, NR_126051.2:n.1556G>T, NR_126051.1:n.1524G>T, XM_011529003.2:c.1366G>T, XM_011529003.1:c.1366G>T, XM_011529004.2:c.1366G>T, XM_011529004.1:c.1366G>T, XR_430311.2:n.1556G>T, XR_430311.1:n.1522G>T, XM_047440384.1:c.1366G>T, XM_047440386.1:c.1363G>T, XM_047440383.1:c.1363G>T, XM_047440385.1:c.1366G>T, XM_047440387.1:c.1363G>T, XM_047440388.1:c.1363G>T, XR_007067476.1:n.1556G>T, XM_047440389.1:c.1366G>T, XP_011527299.1:p.Glu456Ter, XP_011527301.1:p.Glu456Ter, XP_011527300.1:p.Glu456Ter, XP_011527304.1:p.Glu324Ter, XP_011527298.1:p.Glu456Ter, XP_011527302.1:p.Glu455Ter, NP_075047.1:p.Glu455Ter, XP_011527303.1:p.Glu456Ter, XP_011527307.1:p.Glu456Ter, XP_006723926.1:p.Ala456Ser, XP_011527308.1:p.Ala456Ser, XP_005260573.1:p.Gly456Ter, NP_001288789.1:p.Glu456Ter, XP_011527305.1:p.Glu456Ter, XP_011527306.1:p.Glu456Ter, XP_047296340.1:p.Glu456Ter, XP_047296342.1:p.Glu455Ter, XP_047296339.1:p.Glu455Ter, XP_047296341.1:p.Glu456Ter, XP_047296343.1:p.Glu455Ter, XP_047296344.1:p.Glu455Ter, XP_047296345.1:p.Glu456Ter

Select item 146739989515.

rs1467399895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:41352819 (GRCh38)
20:39981459 (GRCh37)
Canonical SPDI:: NC_000020.11:41352818:T:A
Gene:: LPIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.41352819T>A, NC_000020.10:g.39981459T>A, XM_011528997.4:c.1482T>A, XM_011528997.3:c.1482T>A, XM_011528997.2:c.1482T>A, XM_011528997.1:c.1482T>A, XM_011528999.4:c.1482T>A, XM_011528999.3:c.1482T>A, XM_011528999.2:c.1482T>A, XM_011528999.1:c.1482T>A, XM_011528998.4:c.1482T>A, XM_011528998.3:c.1482T>A, XM_011528998.2:c.1482T>A, XM_011528998.1:c.1482T>A, XM_011529002.4:c.1086T>A, XM_011529002.3:c.1086T>A, XM_011529002.2:c.1086T>A, XM_011529002.1:c.1086T>A, XM_011528996.3:c.1482T>A, XM_011528996.2:c.1482T>A, XM_011528996.1:c.1482T>A, XM_011529000.3:c.1479T>A, XM_011529000.2:c.1479T>A, XM_011529000.1:c.1479T>A, NM_022896.3:c.1479T>A, NM_022896.2:c.1479T>A, NM_022896.1:c.1479T>A, XM_011529001.3:c.1482T>A, XM_011529001.2:c.1482T>A, XM_011529001.1:c.1482T>A, XR_936610.3:n.1672T>A, XR_936610.2:n.1638T>A, XR_936610.1:n.1638T>A, XM_011529005.3:c.1482T>A, XM_011529005.2:c.1482T>A, XM_011529005.1:c.1482T>A, XM_005260516.3:c.*52T>A, XM_005260516.2:c.*52T>A, XM_005260516.1:c.*52T>A, NM_001301860.2:c.1482T>A, NM_001301860.1:c.1482T>A, NR_126051.2:n.1672T>A, NR_126051.1:n.1640T>A, XM_011529003.2:c.1482T>A, XM_011529003.1:c.1482T>A, XM_011529004.2:c.1482T>A, XM_011529004.1:c.1482T>A, XR_430311.2:n.1672T>A, XR_430311.1:n.1638T>A, XM_047440384.1:c.1482T>A, XM_047440386.1:c.1479T>A, XM_047440383.1:c.1479T>A, XM_047440385.1:c.1482T>A, XM_047440387.1:c.1479T>A, XM_047440388.1:c.1479T>A, XR_007067476.1:n.1672T>A, XM_047440389.1:c.1482T>A

Select item 146424366416.

rs1464243664 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 20:41345990 (GRCh38)
20:39974630 (GRCh37)
Canonical SPDI:: NC_000020.11:41345989:AA:A
Gene:: LPIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000020.11:g.41345991del, NC_000020.10:g.39974631del, XM_011528997.4:c.188del, XM_011528997.3:c.188del, XM_011528997.2:c.188del, XM_011528997.1:c.188del, XM_011528999.4:c.188del, XM_011528999.3:c.188del, XM_011528999.2:c.188del, XM_011528999.1:c.188del, XM_011528998.4:c.188del, XM_011528998.3:c.188del, XM_011528998.2:c.188del, XM_011528998.1:c.188del, XM_011528996.3:c.188del, XM_011528996.2:c.188del, XM_011528996.1:c.188del, XM_011529000.3:c.188del, XM_011529000.2:c.188del, XM_011529000.1:c.188del, NM_022896.3:c.188del, NM_022896.2:c.188del, NM_022896.1:c.188del, XM_011529001.3:c.188del, XM_011529001.2:c.188del, XM_011529001.1:c.188del, XR_936610.3:n.378del, XR_936610.2:n.344del, XR_936610.1:n.344del, XM_011529005.3:c.188del, XM_011529005.2:c.188del, XM_011529005.1:c.188del, XM_006723863.3:c.188del, XM_006723863.2:c.188del, XM_006723863.1:c.188del, XM_011529006.3:c.188del, XM_011529006.2:c.188del, XM_011529006.1:c.188del, XM_005260516.3:c.188del, XM_005260516.2:c.188del, XM_005260516.1:c.188del, NM_001301860.2:c.188del, NM_001301860.1:c.188del, NR_126051.2:n.378del, NR_126051.1:n.346del, XM_011529003.2:c.188del, XM_011529003.1:c.188del, XM_011529004.2:c.188del, XM_011529004.1:c.188del, XR_430311.2:n.378del, XR_430311.1:n.344del, XM_047440384.1:c.188del, XM_047440386.1:c.188del, XM_047440383.1:c.188del, XM_047440385.1:c.188del, XM_047440387.1:c.188del, XM_047440388.1:c.188del, XR_007067476.1:n.378del, XM_047440389.1:c.188del, XP_011527299.1:p.Lys63fs, XP_011527301.1:p.Lys63fs, XP_011527300.1:p.Lys63fs, XP_011527298.1:p.Lys63fs, XP_011527302.1:p.Lys63fs, NP_075047.1:p.Lys63fs, XP_011527303.1:p.Lys63fs, XP_011527307.1:p.Lys63fs, XP_006723926.1:p.Lys63fs, XP_011527308.1:p.Lys63fs, XP_005260573.1:p.Lys63fs, NP_001288789.1:p.Lys63fs, XP_011527305.1:p.Lys63fs, XP_011527306.1:p.Lys63fs, XP_047296340.1:p.Lys63fs, XP_047296342.1:p.Lys63fs, XP_047296339.1:p.Lys63fs, XP_047296341.1:p.Lys63fs, XP_047296343.1:p.Lys63fs, XP_047296344.1:p.Lys63fs, XP_047296345.1:p.Lys63fs

Select item 146280131017.

rs1462801310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:41350092 (GRCh38)
20:39978732 (GRCh37)
Canonical SPDI:: NC_000020.11:41350091:T:G
Gene:: LPIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.41350092T>G, NC_000020.10:g.39978732T>G, XM_011528997.4:c.800T>G, XM_011528997.3:c.800T>G, XM_011528997.2:c.800T>G, XM_011528997.1:c.800T>G, XM_011528999.4:c.800T>G, XM_011528999.3:c.800T>G, XM_011528999.2:c.800T>G, XM_011528999.1:c.800T>G, XM_011528998.4:c.800T>G, XM_011528998.3:c.800T>G, XM_011528998.2:c.800T>G, XM_011528998.1:c.800T>G, XM_011529002.4:c.404T>G, XM_011529002.3:c.404T>G, XM_011529002.2:c.404T>G, XM_011529002.1:c.404T>G, XM_011528996.3:c.800T>G, XM_011528996.2:c.800T>G, XM_011528996.1:c.800T>G, XM_011529000.3:c.797T>G, XM_011529000.2:c.797T>G, XM_011529000.1:c.797T>G, NM_022896.3:c.797T>G, NM_022896.2:c.797T>G, NM_022896.1:c.797T>G, XM_011529001.3:c.800T>G, XM_011529001.2:c.800T>G, XM_011529001.1:c.800T>G, XR_936610.3:n.990T>G, XR_936610.2:n.956T>G, XR_936610.1:n.956T>G, XM_011529005.3:c.800T>G, XM_011529005.2:c.800T>G, XM_011529005.1:c.800T>G, XM_006723863.3:c.800T>G, XM_006723863.2:c.800T>G, XM_006723863.1:c.800T>G, XM_011529006.3:c.800T>G, XM_011529006.2:c.800T>G, XM_011529006.1:c.800T>G, XM_005260516.3:c.800T>G, XM_005260516.2:c.800T>G, XM_005260516.1:c.800T>G, NM_001301860.2:c.800T>G, NM_001301860.1:c.800T>G, NR_126051.2:n.990T>G, NR_126051.1:n.958T>G, XM_011529003.2:c.800T>G, XM_011529003.1:c.800T>G, XM_011529004.2:c.800T>G, XM_011529004.1:c.800T>G, XR_430311.2:n.990T>G, XR_430311.1:n.956T>G, XM_047440384.1:c.800T>G, XM_047440386.1:c.797T>G, XM_047440383.1:c.797T>G, XM_047440385.1:c.800T>G, XM_047440387.1:c.797T>G, XM_047440388.1:c.797T>G, XR_007067476.1:n.990T>G, XM_047440389.1:c.800T>G, XP_011527299.1:p.Leu267Arg, XP_011527301.1:p.Leu267Arg, XP_011527300.1:p.Leu267Arg, XP_011527304.1:p.Leu135Arg, XP_011527298.1:p.Leu267Arg, XP_011527302.1:p.Leu266Arg, NP_075047.1:p.Leu266Arg, XP_011527303.1:p.Leu267Arg, XP_011527307.1:p.Leu267Arg, XP_006723926.1:p.Leu267Arg, XP_011527308.1:p.Leu267Arg, XP_005260573.1:p.Leu267Arg, NP_001288789.1:p.Leu267Arg, XP_011527305.1:p.Leu267Arg, XP_011527306.1:p.Leu267Arg, XP_047296340.1:p.Leu267Arg, XP_047296342.1:p.Leu266Arg, XP_047296339.1:p.Leu266Arg, XP_047296341.1:p.Leu267Arg, XP_047296343.1:p.Leu266Arg, XP_047296344.1:p.Leu266Arg, XP_047296345.1:p.Leu267Arg

Select item 146145105618.

rs1461451056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41350320 (GRCh38)
20:39978960 (GRCh37)
Canonical SPDI:: NC_000020.11:41350319:C:T
Gene:: LPIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.41350320C>T, NC_000020.10:g.39978960C>T, XM_011528997.4:c.1028C>T, XM_011528997.3:c.1028C>T, XM_011528997.2:c.1028C>T, XM_011528997.1:c.1028C>T, XM_011528999.4:c.1028C>T, XM_011528999.3:c.1028C>T, XM_011528999.2:c.1028C>T, XM_011528999.1:c.1028C>T, XM_011528998.4:c.1028C>T, XM_011528998.3:c.1028C>T, XM_011528998.2:c.1028C>T, XM_011528998.1:c.1028C>T, XM_011529002.4:c.632C>T, XM_011529002.3:c.632C>T, XM_011529002.2:c.632C>T, XM_011529002.1:c.632C>T, XM_011528996.3:c.1028C>T, XM_011528996.2:c.1028C>T, XM_011528996.1:c.1028C>T, XM_011529000.3:c.1025C>T, XM_011529000.2:c.1025C>T, XM_011529000.1:c.1025C>T, NM_022896.3:c.1025C>T, NM_022896.2:c.1025C>T, NM_022896.1:c.1025C>T, XM_011529001.3:c.1028C>T, XM_011529001.2:c.1028C>T, XM_011529001.1:c.1028C>T, XR_936610.3:n.1218C>T, XR_936610.2:n.1184C>T, XR_936610.1:n.1184C>T, XM_011529005.3:c.1028C>T, XM_011529005.2:c.1028C>T, XM_011529005.1:c.1028C>T, XM_006723863.3:c.1028C>T, XM_006723863.2:c.1028C>T, XM_006723863.1:c.1028C>T, XM_011529006.3:c.1028C>T, XM_011529006.2:c.1028C>T, XM_011529006.1:c.1028C>T, XM_005260516.3:c.1028C>T, XM_005260516.2:c.1028C>T, XM_005260516.1:c.1028C>T, NM_001301860.2:c.1028C>T, NM_001301860.1:c.1028C>T, NR_126051.2:n.1218C>T, NR_126051.1:n.1186C>T, XM_011529003.2:c.1028C>T, XM_011529003.1:c.1028C>T, XM_011529004.2:c.1028C>T, XM_011529004.1:c.1028C>T, XR_430311.2:n.1218C>T, XR_430311.1:n.1184C>T, XM_047440384.1:c.1028C>T, XM_047440386.1:c.1025C>T, XM_047440383.1:c.1025C>T, XM_047440385.1:c.1028C>T, XM_047440387.1:c.1025C>T, XM_047440388.1:c.1025C>T, XR_007067476.1:n.1218C>T, XM_047440389.1:c.1028C>T, XP_011527299.1:p.Ala343Val, XP_011527301.1:p.Ala343Val, XP_011527300.1:p.Ala343Val, XP_011527304.1:p.Ala211Val, XP_011527298.1:p.Ala343Val, XP_011527302.1:p.Ala342Val, NP_075047.1:p.Ala342Val, XP_011527303.1:p.Ala343Val, XP_011527307.1:p.Ala343Val, XP_006723926.1:p.Ala343Val, XP_011527308.1:p.Ala343Val, XP_005260573.1:p.Ala343Val, NP_001288789.1:p.Ala343Val, XP_011527305.1:p.Ala343Val, XP_011527306.1:p.Ala343Val, XP_047296340.1:p.Ala343Val, XP_047296342.1:p.Ala342Val, XP_047296339.1:p.Ala342Val, XP_047296341.1:p.Ala343Val, XP_047296343.1:p.Ala342Val, XP_047296344.1:p.Ala342Val, XP_047296345.1:p.Ala343Val

Select item 145901327819.

rs1459013278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:41357627 (GRCh38)
20:39986267 (GRCh37)
Canonical SPDI:: NC_000020.11:41357626:T:A
Gene:: LPIN3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.41357627T>A, NC_000020.10:g.39986267T>A, XM_011529005.3:c.2070T>A, XM_011529005.2:c.2070T>A, XM_011529005.1:c.2070T>A

Select item 145898879120.

rs1458988791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:41354719 (GRCh38)
20:39983359 (GRCh37)
Canonical SPDI:: NC_000020.11:41354718:G:A
Gene:: LPIN3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.41354719G>A, NC_000020.10:g.39983359G>A, XM_011528997.4:c.1605G>A, XM_011528997.3:c.1605G>A, XM_011528997.2:c.1605G>A, XM_011528997.1:c.1605G>A, XM_011528999.4:c.1605G>A, XM_011528999.3:c.1605G>A, XM_011528999.2:c.1605G>A, XM_011528999.1:c.1605G>A, XM_011528998.4:c.1605G>A, XM_011528998.3:c.1605G>A, XM_011528998.2:c.1605G>A, XM_011528998.1:c.1605G>A, XM_011529002.4:c.1209G>A, XM_011529002.3:c.1209G>A, XM_011529002.2:c.1209G>A, XM_011529002.1:c.1209G>A, XM_011528996.3:c.1605G>A, XM_011528996.2:c.1605G>A, XM_011528996.1:c.1605G>A, XM_011529000.3:c.1602G>A, XM_011529000.2:c.1602G>A, XM_011529000.1:c.1602G>A, NM_022896.3:c.1602G>A, NM_022896.2:c.1602G>A, NM_022896.1:c.1602G>A, XM_011529001.3:c.1605G>A, XM_011529001.2:c.1605G>A, XM_011529001.1:c.1605G>A, XR_936610.3:n.1795G>A, XR_936610.2:n.1761G>A, XR_936610.1:n.1761G>A, XM_011529005.3:c.1605G>A, XM_011529005.2:c.1605G>A, XM_011529005.1:c.1605G>A, NM_001301860.2:c.1605G>A, NM_001301860.1:c.1605G>A, NR_126051.2:n.1795G>A, NR_126051.1:n.1763G>A, XM_011529003.2:c.1605G>A, XM_011529003.1:c.1605G>A, XM_011529004.2:c.1605G>A, XM_011529004.1:c.1605G>A, XR_430311.2:n.1795G>A, XR_430311.1:n.1761G>A, XM_047440384.1:c.1605G>A, XM_047440386.1:c.1602G>A, XM_047440383.1:c.1602G>A, XM_047440385.1:c.1605G>A, XM_047440387.1:c.1602G>A, XM_047440388.1:c.1602G>A, XR_007067476.1:n.1795G>A, XM_047440389.1:c.1605G>A

<< First< Prev

Page of 38

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 768018115) (741)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...