SNP Links for Protein (Select 297515490) - SNP

Links from Protein

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Select item 14770900461.

rs1477090046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:158356831 (GRCh38)
1:158326621 (GRCh37)
Canonical SPDI:: NC_000001.11:158356830:C:G,NC_000001.11:158356830:C:T
Gene:: CD1E (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.158356831C>G, NC_000001.11:g.158356831C>T, NC_000001.10:g.158326621C>G, NC_000001.10:g.158326621C>T, NM_030893.4:c.1102C>G, NM_030893.4:c.1102C>T, NM_030893.3:c.1102C>G, NM_030893.3:c.1102C>T, XM_011510133.4:c.937C>G, XM_011510133.4:c.937C>T, XM_011510133.3:c.937C>G, XM_011510133.3:c.937C>T, XM_011510133.2:c.937C>G, XM_011510133.2:c.937C>T, XM_011510133.1:c.937C>G, XM_011510133.1:c.937C>T, NM_001042583.3:c.1066C>G, NM_001042583.3:c.1066C>T, NM_001042583.2:c.1066C>G, NM_001042583.2:c.1066C>T, NM_001042584.3:c.*125C>G, NM_001042584.3:c.*125C>T, NM_001042584.2:c.*125C>G, NM_001042584.2:c.*125C>T, NM_001042585.3:c.901C>G, NM_001042585.3:c.901C>T, NM_001042585.2:c.901C>G, NM_001042585.2:c.901C>T, NM_001042586.3:c.499C>G, NM_001042586.3:c.499C>T, NM_001042586.2:c.499C>G, NM_001042586.2:c.499C>T, NM_001042587.3:c.*125C>G, NM_001042587.3:c.*125C>T, NM_001042587.2:c.*125C>G, NM_001042587.2:c.*125C>T, NM_001185107.2:c.832C>G, NM_001185107.2:c.832C>T, NM_001185107.1:c.832C>G, NM_001185107.1:c.832C>T, NM_001185114.2:c.805C>G, NM_001185114.2:c.805C>T, NM_001185114.1:c.805C>G, NM_001185114.1:c.805C>T, NM_001185115.2:c.796C>G, NM_001185115.2:c.796C>T, NM_001185115.1:c.796C>G, NM_001185115.1:c.796C>T, NM_001185108.2:c.631C>G, NM_001185108.2:c.631C>T, NM_001185108.1:c.631C>G, NM_001185108.1:c.631C>T, NM_001185112.2:c.535C>G, NM_001185112.2:c.535C>T, NM_001185112.1:c.535C>G, NM_001185112.1:c.535C>T, NM_001185113.2:c.370C>G, NM_001185113.2:c.370C>T, NM_001185113.1:c.370C>G, NM_001185113.1:c.370C>T, NM_001185110.2:c.334C>G, NM_001185110.2:c.334C>T, NM_001185110.1:c.334C>G, NM_001185110.1:c.334C>T, XM_047434050.1:c.769C>G, XM_047434050.1:c.769C>T, XM_047434051.1:c.667C>G, XM_047434051.1:c.667C>T, XM_047434054.1:c.640C>G, XM_047434054.1:c.640C>T, XM_047434055.1:c.604C>G, XM_047434055.1:c.604C>T, NP_112155.2:p.Gln368Glu, NP_112155.2:p.Gln368Ter, XP_011508435.1:p.Gln313Glu, XP_011508435.1:p.Gln313Ter, NP_001036048.1:p.Gln356Glu, NP_001036048.1:p.Gln356Ter, NP_001036050.1:p.Gln301Glu, NP_001036050.1:p.Gln301Ter, NP_001036051.1:p.Gln167Glu, NP_001036051.1:p.Gln167Ter, NP_001172036.1:p.Gln278Glu, NP_001172036.1:p.Gln278Ter, NP_001172043.1:p.Gln269Glu, NP_001172043.1:p.Gln269Ter, NP_001172044.1:p.Gln266Glu, NP_001172044.1:p.Gln266Ter, NP_001172037.1:p.Gln211Glu, NP_001172037.1:p.Gln211Ter, NP_001172041.1:p.Gln179Glu, NP_001172041.1:p.Gln179Ter, NP_001172042.1:p.Gln124Glu, NP_001172042.1:p.Gln124Ter, NP_001172039.1:p.Gln112Glu, NP_001172039.1:p.Gln112Ter, XP_047290006.1:p.Gln257Glu, XP_047290006.1:p.Gln257Ter, XP_047290007.1:p.Gln223Glu, XP_047290007.1:p.Gln223Ter, XP_047290010.1:p.Gln214Glu, XP_047290010.1:p.Gln214Ter, XP_047290011.1:p.Gln202Glu, XP_047290011.1:p.Gln202Ter

Select item 14748310202.

rs1474831020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:158356754 (GRCh38)
1:158326544 (GRCh37)
Canonical SPDI:: NC_000001.11:158356753:A:T
Gene:: CD1E (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,intron_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_000001.11:g.158356754A>T, NC_000001.10:g.158326544A>T, NM_030893.4:c.1025A>T, NM_030893.3:c.1025A>T, XM_011510133.4:c.860A>T, XM_011510133.3:c.860A>T, XM_011510133.2:c.860A>T, XM_011510133.1:c.860A>T, NM_001042584.3:c.*48A>T, NM_001042584.2:c.*48A>T, NM_001042587.3:c.*48A>T, NM_001042587.2:c.*48A>T, NM_001185107.2:c.755A>T, NM_001185107.1:c.755A>T, NM_001185114.2:c.728A>T, NM_001185114.1:c.728A>T, NM_001185112.2:c.458A>T, NM_001185112.1:c.458A>T, NM_001185113.2:c.293A>T, NM_001185113.1:c.293A>T, XM_047434051.1:c.590A>T, XM_047434054.1:c.563A>T, NP_112155.2:p.His342Leu, XP_011508435.1:p.His287Leu, NP_001172036.1:p.His252Leu, NP_001172043.1:p.His243Leu, NP_001172041.1:p.His153Leu, NP_001172042.1:p.His98Leu, XP_047290007.1:p.His197Leu, XP_047290010.1:p.His188Leu

Select item 14660142043.

rs1466014204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158356766 (GRCh38)
1:158326556 (GRCh37)
Canonical SPDI:: NC_000001.11:158356765:C:T
Gene:: CD1E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.158356766C>T, NC_000001.10:g.158326556C>T, NM_030893.4:c.1037C>T, NM_030893.3:c.1037C>T, XM_011510133.4:c.872C>T, XM_011510133.3:c.872C>T, XM_011510133.2:c.872C>T, XM_011510133.1:c.872C>T, NM_001042583.3:c.1001C>T, NM_001042583.2:c.1001C>T, NM_001042584.3:c.*60C>T, NM_001042584.2:c.*60C>T, NM_001042585.3:c.836C>T, NM_001042585.2:c.836C>T, NM_001042586.3:c.434C>T, NM_001042586.2:c.434C>T, NM_001042587.3:c.*60C>T, NM_001042587.2:c.*60C>T, NM_001185107.2:c.767C>T, NM_001185107.1:c.767C>T, NM_001185114.2:c.740C>T, NM_001185114.1:c.740C>T, NM_001185115.2:c.731C>T, NM_001185115.1:c.731C>T, NM_001185108.2:c.566C>T, NM_001185108.1:c.566C>T, NM_001185112.2:c.470C>T, NM_001185112.1:c.470C>T, NM_001185113.2:c.305C>T, NM_001185113.1:c.305C>T, NM_001185110.2:c.269C>T, NM_001185110.1:c.269C>T, XM_047434050.1:c.704C>T, XM_047434051.1:c.602C>T, XM_047434054.1:c.575C>T, XM_047434055.1:c.539C>T, NP_112155.2:p.Pro346Leu, XP_011508435.1:p.Pro291Leu, NP_001036048.1:p.Pro334Leu, NP_001036050.1:p.Pro279Leu, NP_001036051.1:p.Pro145Leu, NP_001172036.1:p.Pro256Leu, NP_001172043.1:p.Pro247Leu, NP_001172044.1:p.Pro244Leu, NP_001172037.1:p.Pro189Leu, NP_001172041.1:p.Pro157Leu, NP_001172042.1:p.Pro102Leu, NP_001172039.1:p.Pro90Leu, XP_047290006.1:p.Pro235Leu, XP_047290007.1:p.Pro201Leu, XP_047290010.1:p.Pro192Leu, XP_047290011.1:p.Pro180Leu

Select item 14655340154.

rs1465534015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:158355855 (GRCh38)
1:158325645 (GRCh37)
Canonical SPDI:: NC_000001.11:158355854:C:A,NC_000001.11:158355854:C:T
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.158355855C>A, NC_000001.11:g.158355855C>T, NC_000001.10:g.158325645C>A, NC_000001.10:g.158325645C>T, NM_030893.4:c.654C>A, NM_030893.4:c.654C>T, NM_030893.3:c.654C>A, NM_030893.3:c.654C>T, XM_011510133.4:c.654C>A, XM_011510133.4:c.654C>T, XM_011510133.3:c.654C>A, XM_011510133.3:c.654C>T, XM_011510133.2:c.654C>A, XM_011510133.2:c.654C>T, XM_011510133.1:c.654C>A, XM_011510133.1:c.654C>T, NM_001042583.3:c.654C>A, NM_001042583.3:c.654C>T, NM_001042583.2:c.654C>A, NM_001042583.2:c.654C>T, NM_001042584.3:c.654C>A, NM_001042584.3:c.654C>T, NM_001042584.2:c.654C>A, NM_001042584.2:c.654C>T, NM_001042585.3:c.654C>A, NM_001042585.3:c.654C>T, NM_001042585.2:c.654C>A, NM_001042585.2:c.654C>T, NM_001042586.3:c.87C>A, NM_001042586.3:c.87C>T, NM_001042586.2:c.87C>A, NM_001042586.2:c.87C>T, NM_001042587.3:c.87C>A, NM_001042587.3:c.87C>T, NM_001042587.2:c.87C>A, NM_001042587.2:c.87C>T, NM_001185107.2:c.384C>A, NM_001185107.2:c.384C>T, NM_001185107.1:c.384C>A, NM_001185107.1:c.384C>T, NM_001185114.2:c.357C>A, NM_001185114.2:c.357C>T, NM_001185114.1:c.357C>A, NM_001185114.1:c.357C>T, NM_001185115.2:c.384C>A, NM_001185115.2:c.384C>T, NM_001185115.1:c.384C>A, NM_001185115.1:c.384C>T, NM_001185108.2:c.384C>A, NM_001185108.2:c.384C>T, NM_001185108.1:c.384C>A, NM_001185108.1:c.384C>T, NM_001185112.2:c.87C>A, NM_001185112.2:c.87C>T, NM_001185112.1:c.87C>A, NM_001185112.1:c.87C>T, NM_001185113.2:c.87C>A, NM_001185113.2:c.87C>T, NM_001185113.1:c.87C>A, NM_001185113.1:c.87C>T, NM_001185110.2:c.87C>A, NM_001185110.2:c.87C>T, NM_001185110.1:c.87C>A, NM_001185110.1:c.87C>T, XM_047434050.1:c.357C>A, XM_047434050.1:c.357C>T, XM_047434051.1:c.384C>A, XM_047434051.1:c.384C>T, XM_047434054.1:c.357C>A, XM_047434054.1:c.357C>T, XM_047434055.1:c.357C>A, XM_047434055.1:c.357C>T

Select item 14592108125.

rs1459210812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:158355926 (GRCh38)
1:158325716 (GRCh37)
Canonical SPDI:: NC_000001.11:158355925:T:A
Gene:: CD1E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158355926T>A, NC_000001.10:g.158325716T>A, NM_030893.4:c.725T>A, NM_030893.3:c.725T>A, XM_011510133.4:c.725T>A, XM_011510133.3:c.725T>A, XM_011510133.2:c.725T>A, XM_011510133.1:c.725T>A, NM_001042583.3:c.725T>A, NM_001042583.2:c.725T>A, NM_001042584.3:c.725T>A, NM_001042584.2:c.725T>A, NM_001042585.3:c.725T>A, NM_001042585.2:c.725T>A, NM_001042586.3:c.158T>A, NM_001042586.2:c.158T>A, NM_001042587.3:c.158T>A, NM_001042587.2:c.158T>A, NM_001185107.2:c.455T>A, NM_001185107.1:c.455T>A, NM_001185114.2:c.428T>A, NM_001185114.1:c.428T>A, NM_001185115.2:c.455T>A, NM_001185115.1:c.455T>A, NM_001185108.2:c.455T>A, NM_001185108.1:c.455T>A, NM_001185112.2:c.158T>A, NM_001185112.1:c.158T>A, NM_001185113.2:c.158T>A, NM_001185113.1:c.158T>A, NM_001185110.2:c.158T>A, NM_001185110.1:c.158T>A, XM_047434050.1:c.428T>A, XM_047434051.1:c.455T>A, XM_047434054.1:c.428T>A, XM_047434055.1:c.428T>A, NP_112155.2:p.Val242Glu, XP_011508435.1:p.Val242Glu, NP_001036048.1:p.Val242Glu, NP_001036049.1:p.Val242Glu, NP_001036050.1:p.Val242Glu, NP_001036051.1:p.Val53Glu, NP_001036052.1:p.Val53Glu, NP_001172036.1:p.Val152Glu, NP_001172043.1:p.Val143Glu, NP_001172044.1:p.Val152Glu, NP_001172037.1:p.Val152Glu, NP_001172041.1:p.Val53Glu, NP_001172042.1:p.Val53Glu, NP_001172039.1:p.Val53Glu, XP_047290006.1:p.Val143Glu, XP_047290007.1:p.Val152Glu, XP_047290010.1:p.Val143Glu, XP_047290011.1:p.Val143Glu

Select item 14573475896.

rs1457347589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:158356558 (GRCh38)
1:158326348 (GRCh37)
Canonical SPDI:: NC_000001.11:158356557:T:C
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.158356558T>C, NC_000001.10:g.158326348T>C, NM_030893.4:c.965T>C, NM_030893.3:c.965T>C, XM_011510133.4:c.800T>C, XM_011510133.3:c.800T>C, XM_011510133.2:c.800T>C, XM_011510133.1:c.800T>C, NM_001042583.3:c.965T>C, NM_001042583.2:c.965T>C, NM_001042584.3:c.861T>C, NM_001042584.2:c.861T>C, NM_001042585.3:c.800T>C, NM_001042585.2:c.800T>C, NM_001042586.3:c.398T>C, NM_001042586.2:c.398T>C, NM_001042587.3:c.294T>C, NM_001042587.2:c.294T>C, NM_001185107.2:c.695T>C, NM_001185107.1:c.695T>C, NM_001185114.2:c.668T>C, NM_001185114.1:c.668T>C, NM_001185115.2:c.695T>C, NM_001185115.1:c.695T>C, NM_001185108.2:c.530T>C, NM_001185108.1:c.530T>C, NM_001185112.2:c.398T>C, NM_001185112.1:c.398T>C, NM_001185113.2:c.233T>C, NM_001185113.1:c.233T>C, NM_001185110.2:c.233T>C, NM_001185110.1:c.233T>C, XM_047434050.1:c.668T>C, XM_047434051.1:c.530T>C, XM_047434054.1:c.503T>C, XM_047434055.1:c.503T>C, NP_112155.2:p.Leu322Ser, XP_011508435.1:p.Leu267Ser, NP_001036048.1:p.Leu322Ser, NP_001036050.1:p.Leu267Ser, NP_001036051.1:p.Leu133Ser, NP_001172036.1:p.Leu232Ser, NP_001172043.1:p.Leu223Ser, NP_001172044.1:p.Leu232Ser, NP_001172037.1:p.Leu177Ser, NP_001172041.1:p.Leu133Ser, NP_001172042.1:p.Leu78Ser, NP_001172039.1:p.Leu78Ser, XP_047290006.1:p.Leu223Ser, XP_047290007.1:p.Leu177Ser, XP_047290010.1:p.Leu168Ser, XP_047290011.1:p.Leu168Ser

Select item 14532015417.

rs1453201541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:158355843 (GRCh38)
1:158325633 (GRCh37)
Canonical SPDI:: NC_000001.11:158355842:G:A
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158355843G>A, NC_000001.10:g.158325633G>A, NM_030893.4:c.642G>A, NM_030893.3:c.642G>A, XM_011510133.4:c.642G>A, XM_011510133.3:c.642G>A, XM_011510133.2:c.642G>A, XM_011510133.1:c.642G>A, NM_001042583.3:c.642G>A, NM_001042583.2:c.642G>A, NM_001042584.3:c.642G>A, NM_001042584.2:c.642G>A, NM_001042585.3:c.642G>A, NM_001042585.2:c.642G>A, NM_001042586.3:c.75G>A, NM_001042586.2:c.75G>A, NM_001042587.3:c.75G>A, NM_001042587.2:c.75G>A, NM_001185107.2:c.372G>A, NM_001185107.1:c.372G>A, NM_001185114.2:c.345G>A, NM_001185114.1:c.345G>A, NM_001185115.2:c.372G>A, NM_001185115.1:c.372G>A, NM_001185108.2:c.372G>A, NM_001185108.1:c.372G>A, NM_001185112.2:c.75G>A, NM_001185112.1:c.75G>A, NM_001185113.2:c.75G>A, NM_001185113.1:c.75G>A, NM_001185110.2:c.75G>A, NM_001185110.1:c.75G>A, XM_047434050.1:c.345G>A, XM_047434051.1:c.372G>A, XM_047434054.1:c.345G>A, XM_047434055.1:c.345G>A, NP_112155.2:p.Trp214Ter, XP_011508435.1:p.Trp214Ter, NP_001036048.1:p.Trp214Ter, NP_001036049.1:p.Trp214Ter, NP_001036050.1:p.Trp214Ter, NP_001036051.1:p.Trp25Ter, NP_001036052.1:p.Trp25Ter, NP_001172036.1:p.Trp124Ter, NP_001172043.1:p.Trp115Ter, NP_001172044.1:p.Trp124Ter, NP_001172037.1:p.Trp124Ter, NP_001172041.1:p.Trp25Ter, NP_001172042.1:p.Trp25Ter, NP_001172039.1:p.Trp25Ter, XP_047290006.1:p.Trp115Ter, XP_047290007.1:p.Trp124Ter, XP_047290010.1:p.Trp115Ter, XP_047290011.1:p.Trp115Ter

Select item 14509409238.

rs1450940923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:158356866 (GRCh38)
1:158326656 (GRCh37)
Canonical SPDI:: NC_000001.11:158356865:G:A
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.158356866G>A, NC_000001.10:g.158326656G>A, NM_030893.4:c.1137G>A, NM_030893.3:c.1137G>A, XM_011510133.4:c.972G>A, XM_011510133.3:c.972G>A, XM_011510133.2:c.972G>A, XM_011510133.1:c.972G>A, NM_001042583.3:c.1101G>A, NM_001042583.2:c.1101G>A, NM_001042584.3:c.*160G>A, NM_001042584.2:c.*160G>A, NM_001042585.3:c.936G>A, NM_001042585.2:c.936G>A, NM_001042586.3:c.534G>A, NM_001042586.2:c.534G>A, NM_001042587.3:c.*160G>A, NM_001042587.2:c.*160G>A, NM_001185107.2:c.867G>A, NM_001185107.1:c.867G>A, NM_001185114.2:c.840G>A, NM_001185114.1:c.840G>A, NM_001185115.2:c.831G>A, NM_001185115.1:c.831G>A, NM_001185108.2:c.666G>A, NM_001185108.1:c.666G>A, NM_001185112.2:c.570G>A, NM_001185112.1:c.570G>A, NM_001185113.2:c.405G>A, NM_001185113.1:c.405G>A, NM_001185110.2:c.369G>A, NM_001185110.1:c.369G>A, XM_047434050.1:c.804G>A, XM_047434051.1:c.702G>A, XM_047434054.1:c.675G>A, XM_047434055.1:c.639G>A

Select item 14504869919.

rs1450486991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:158354040 (GRCh38)
1:158323830 (GRCh37)
Canonical SPDI:: NC_000001.11:158354039:A:G
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158354040A>G, NC_000001.10:g.158323830A>G, NM_030893.4:c.52A>G, NM_030893.3:c.52A>G, XM_011510133.4:c.52A>G, XM_011510133.3:c.52A>G, XM_011510133.2:c.52A>G, XM_011510133.1:c.52A>G, NM_001042583.3:c.52A>G, NM_001042583.2:c.52A>G, NM_001042584.3:c.52A>G, NM_001042584.2:c.52A>G, NM_001042585.3:c.52A>G, NM_001042585.2:c.52A>G, NM_001042586.3:c.52A>G, NM_001042586.2:c.52A>G, NM_001042587.3:c.52A>G, NM_001042587.2:c.52A>G, NM_001185107.2:c.52A>G, NM_001185107.1:c.52A>G, NM_001185114.2:c.52A>G, NM_001185114.1:c.52A>G, NM_001185115.2:c.52A>G, NM_001185115.1:c.52A>G, NM_001185108.2:c.52A>G, NM_001185108.1:c.52A>G, NM_001185112.2:c.52A>G, NM_001185112.1:c.52A>G, NM_001185113.2:c.52A>G, NM_001185113.1:c.52A>G, NM_001185110.2:c.52A>G, NM_001185110.1:c.52A>G, XM_047434050.1:c.52A>G, XM_047434051.1:c.52A>G, XM_047434054.1:c.52A>G, XM_047434055.1:c.52A>G, NP_112155.2:p.Thr18Ala, XP_011508435.1:p.Thr18Ala, NP_001036048.1:p.Thr18Ala, NP_001036049.1:p.Thr18Ala, NP_001036050.1:p.Thr18Ala, NP_001036051.1:p.Thr18Ala, NP_001036052.1:p.Thr18Ala, NP_001172036.1:p.Thr18Ala, NP_001172043.1:p.Thr18Ala, NP_001172044.1:p.Thr18Ala, NP_001172037.1:p.Thr18Ala, NP_001172041.1:p.Thr18Ala, NP_001172042.1:p.Thr18Ala, NP_001172039.1:p.Thr18Ala, XP_047290006.1:p.Thr18Ala, XP_047290007.1:p.Thr18Ala, XP_047290010.1:p.Thr18Ala, XP_047290011.1:p.Thr18Ala

Select item 144202591510.

rs1442025915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158353995 (GRCh38)
1:158323785 (GRCh37)
Canonical SPDI:: NC_000001.11:158353994:C:T
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.158353995C>T, NC_000001.10:g.158323785C>T, NM_030893.4:c.7C>T, NM_030893.3:c.7C>T, XM_011510133.4:c.7C>T, XM_011510133.3:c.7C>T, XM_011510133.2:c.7C>T, XM_011510133.1:c.7C>T, NM_001042583.3:c.7C>T, NM_001042583.2:c.7C>T, NM_001042584.3:c.7C>T, NM_001042584.2:c.7C>T, NM_001042585.3:c.7C>T, NM_001042585.2:c.7C>T, NM_001042586.3:c.7C>T, NM_001042586.2:c.7C>T, NM_001042587.3:c.7C>T, NM_001042587.2:c.7C>T, NM_001185107.2:c.7C>T, NM_001185107.1:c.7C>T, NM_001185114.2:c.7C>T, NM_001185114.1:c.7C>T, NM_001185115.2:c.7C>T, NM_001185115.1:c.7C>T, NM_001185108.2:c.7C>T, NM_001185108.1:c.7C>T, NM_001185112.2:c.7C>T, NM_001185112.1:c.7C>T, NM_001185113.2:c.7C>T, NM_001185113.1:c.7C>T, NM_001185110.2:c.7C>T, NM_001185110.1:c.7C>T, XM_047434050.1:c.7C>T, XM_047434051.1:c.7C>T, XM_047434054.1:c.7C>T, XM_047434055.1:c.7C>T, NP_112155.2:p.Leu3Phe, XP_011508435.1:p.Leu3Phe, NP_001036048.1:p.Leu3Phe, NP_001036049.1:p.Leu3Phe, NP_001036050.1:p.Leu3Phe, NP_001036051.1:p.Leu3Phe, NP_001036052.1:p.Leu3Phe, NP_001172036.1:p.Leu3Phe, NP_001172043.1:p.Leu3Phe, NP_001172044.1:p.Leu3Phe, NP_001172037.1:p.Leu3Phe, NP_001172041.1:p.Leu3Phe, NP_001172042.1:p.Leu3Phe, NP_001172039.1:p.Leu3Phe, XP_047290006.1:p.Leu3Phe, XP_047290007.1:p.Leu3Phe, XP_047290010.1:p.Leu3Phe, XP_047290011.1:p.Leu3Phe

Select item 143622688811.

rs1436226888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:158356527 (GRCh38)
1:158326317 (GRCh37)
Canonical SPDI:: NC_000001.11:158356526:T:C
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158356527T>C, NC_000001.10:g.158326317T>C, NM_030893.4:c.934T>C, NM_030893.3:c.934T>C, XM_011510133.4:c.769T>C, XM_011510133.3:c.769T>C, XM_011510133.2:c.769T>C, XM_011510133.1:c.769T>C, NM_001042583.3:c.934T>C, NM_001042583.2:c.934T>C, NM_001042584.3:c.830T>C, NM_001042584.2:c.830T>C, NM_001042585.3:c.769T>C, NM_001042585.2:c.769T>C, NM_001042586.3:c.367T>C, NM_001042586.2:c.367T>C, NM_001042587.3:c.263T>C, NM_001042587.2:c.263T>C, NM_001185107.2:c.664T>C, NM_001185107.1:c.664T>C, NM_001185114.2:c.637T>C, NM_001185114.1:c.637T>C, NM_001185115.2:c.664T>C, NM_001185115.1:c.664T>C, NM_001185108.2:c.499T>C, NM_001185108.1:c.499T>C, NM_001185112.2:c.367T>C, NM_001185112.1:c.367T>C, NM_001185113.2:c.202T>C, NM_001185113.1:c.202T>C, NM_001185110.2:c.202T>C, NM_001185110.1:c.202T>C, XM_047434050.1:c.637T>C, XM_047434051.1:c.499T>C, XM_047434054.1:c.472T>C, XM_047434055.1:c.472T>C, NP_112155.2:p.Cys312Arg, XP_011508435.1:p.Cys257Arg, NP_001036048.1:p.Cys312Arg, NP_001036049.1:p.Leu277Pro, NP_001036050.1:p.Cys257Arg, NP_001036051.1:p.Cys123Arg, NP_001036052.1:p.Leu88Pro, NP_001172036.1:p.Cys222Arg, NP_001172043.1:p.Cys213Arg, NP_001172044.1:p.Cys222Arg, NP_001172037.1:p.Cys167Arg, NP_001172041.1:p.Cys123Arg, NP_001172042.1:p.Cys68Arg, NP_001172039.1:p.Cys68Arg, XP_047290006.1:p.Cys213Arg, XP_047290007.1:p.Cys167Arg, XP_047290010.1:p.Cys158Arg, XP_047290011.1:p.Cys158Arg

Select item 143082291412.

rs1430822914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:158356564 (GRCh38)
1:158326354 (GRCh37)
Canonical SPDI:: NC_000001.11:158356563:T:C
Gene:: CD1E (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.158356564T>C, NC_000001.10:g.158326354T>C, NM_030893.4:c.971T>C, NM_030893.3:c.971T>C, XM_011510133.4:c.806T>C, XM_011510133.3:c.806T>C, XM_011510133.2:c.806T>C, XM_011510133.1:c.806T>C, NM_001042583.3:c.971T>C, NM_001042583.2:c.971T>C, NM_001042584.3:c.867T>C, NM_001042584.2:c.867T>C, NM_001042585.3:c.806T>C, NM_001042585.2:c.806T>C, NM_001042586.3:c.404T>C, NM_001042586.2:c.404T>C, NM_001042587.3:c.300T>C, NM_001042587.2:c.300T>C, NM_001185107.2:c.701T>C, NM_001185107.1:c.701T>C, NM_001185114.2:c.674T>C, NM_001185114.1:c.674T>C, NM_001185115.2:c.701T>C, NM_001185115.1:c.701T>C, NM_001185108.2:c.536T>C, NM_001185108.1:c.536T>C, NM_001185112.2:c.404T>C, NM_001185112.1:c.404T>C, NM_001185113.2:c.239T>C, NM_001185113.1:c.239T>C, NM_001185110.2:c.239T>C, NM_001185110.1:c.239T>C, XM_047434050.1:c.674T>C, XM_047434051.1:c.536T>C, XM_047434054.1:c.509T>C, XM_047434055.1:c.509T>C, NP_112155.2:p.Val324Ala, XP_011508435.1:p.Val269Ala, NP_001036048.1:p.Val324Ala, NP_001036050.1:p.Val269Ala, NP_001036051.1:p.Val135Ala, NP_001172036.1:p.Val234Ala, NP_001172043.1:p.Val225Ala, NP_001172044.1:p.Val234Ala, NP_001172037.1:p.Val179Ala, NP_001172041.1:p.Val135Ala, NP_001172042.1:p.Val80Ala, NP_001172039.1:p.Val80Ala, XP_047290006.1:p.Val225Ala, XP_047290007.1:p.Val179Ala, XP_047290010.1:p.Val170Ala, XP_047290011.1:p.Val170Ala

Select item 142583408113.

rs1425834081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:158354006 (GRCh38)
1:158323796 (GRCh37)
Canonical SPDI:: NC_000001.11:158354005:C:G
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.158354006C>G, NC_000001.10:g.158323796C>G, NM_030893.4:c.18C>G, NM_030893.3:c.18C>G, XM_011510133.4:c.18C>G, XM_011510133.3:c.18C>G, XM_011510133.2:c.18C>G, XM_011510133.1:c.18C>G, NM_001042583.3:c.18C>G, NM_001042583.2:c.18C>G, NM_001042584.3:c.18C>G, NM_001042584.2:c.18C>G, NM_001042585.3:c.18C>G, NM_001042585.2:c.18C>G, NM_001042586.3:c.18C>G, NM_001042586.2:c.18C>G, NM_001042587.3:c.18C>G, NM_001042587.2:c.18C>G, NM_001185107.2:c.18C>G, NM_001185107.1:c.18C>G, NM_001185114.2:c.18C>G, NM_001185114.1:c.18C>G, NM_001185115.2:c.18C>G, NM_001185115.1:c.18C>G, NM_001185108.2:c.18C>G, NM_001185108.1:c.18C>G, NM_001185112.2:c.18C>G, NM_001185112.1:c.18C>G, NM_001185113.2:c.18C>G, NM_001185113.1:c.18C>G, NM_001185110.2:c.18C>G, NM_001185110.1:c.18C>G, XM_047434050.1:c.18C>G, XM_047434051.1:c.18C>G, XM_047434054.1:c.18C>G, XM_047434055.1:c.18C>G

Select item 141559066314.

rs1415590663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:158356756 (GRCh38)
1:158326546 (GRCh37)
Canonical SPDI:: NC_000001.11:158356755:A:C
Gene:: CD1E (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.158356756A>C, NC_000001.10:g.158326546A>C, NM_030893.4:c.1027A>C, NM_030893.3:c.1027A>C, XM_011510133.4:c.862A>C, XM_011510133.3:c.862A>C, XM_011510133.2:c.862A>C, XM_011510133.1:c.862A>C, NM_001042584.3:c.*50A>C, NM_001042584.2:c.*50A>C, NM_001042587.3:c.*50A>C, NM_001042587.2:c.*50A>C, NM_001185107.2:c.757A>C, NM_001185107.1:c.757A>C, NM_001185114.2:c.730A>C, NM_001185114.1:c.730A>C, NM_001185112.2:c.460A>C, NM_001185112.1:c.460A>C, NM_001185113.2:c.295A>C, NM_001185113.1:c.295A>C, XM_047434051.1:c.592A>C, XM_047434054.1:c.565A>C, NP_112155.2:p.Thr343Pro, XP_011508435.1:p.Thr288Pro, NP_001172036.1:p.Thr253Pro, NP_001172043.1:p.Thr244Pro, NP_001172041.1:p.Thr154Pro, NP_001172042.1:p.Thr99Pro, XP_047290007.1:p.Thr198Pro, XP_047290010.1:p.Thr189Pro

Select item 141334051415.

rs1413340514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:158355925 (GRCh38)
1:158325715 (GRCh37)
Canonical SPDI:: NC_000001.11:158355924:G:A,NC_000001.11:158355924:G:T
Gene:: CD1E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158355925G>A, NC_000001.11:g.158355925G>T, NC_000001.10:g.158325715G>A, NC_000001.10:g.158325715G>T, NM_030893.4:c.724G>A, NM_030893.4:c.724G>T, NM_030893.3:c.724G>A, NM_030893.3:c.724G>T, XM_011510133.4:c.724G>A, XM_011510133.4:c.724G>T, XM_011510133.3:c.724G>A, XM_011510133.3:c.724G>T, XM_011510133.2:c.724G>A, XM_011510133.2:c.724G>T, XM_011510133.1:c.724G>A, XM_011510133.1:c.724G>T, NM_001042583.3:c.724G>A, NM_001042583.3:c.724G>T, NM_001042583.2:c.724G>A, NM_001042583.2:c.724G>T, NM_001042584.3:c.724G>A, NM_001042584.3:c.724G>T, NM_001042584.2:c.724G>A, NM_001042584.2:c.724G>T, NM_001042585.3:c.724G>A, NM_001042585.3:c.724G>T, NM_001042585.2:c.724G>A, NM_001042585.2:c.724G>T, NM_001042586.3:c.157G>A, NM_001042586.3:c.157G>T, NM_001042586.2:c.157G>A, NM_001042586.2:c.157G>T, NM_001042587.3:c.157G>A, NM_001042587.3:c.157G>T, NM_001042587.2:c.157G>A, NM_001042587.2:c.157G>T, NM_001185107.2:c.454G>A, NM_001185107.2:c.454G>T, NM_001185107.1:c.454G>A, NM_001185107.1:c.454G>T, NM_001185114.2:c.427G>A, NM_001185114.2:c.427G>T, NM_001185114.1:c.427G>A, NM_001185114.1:c.427G>T, NM_001185115.2:c.454G>A, NM_001185115.2:c.454G>T, NM_001185115.1:c.454G>A, NM_001185115.1:c.454G>T, NM_001185108.2:c.454G>A, NM_001185108.2:c.454G>T, NM_001185108.1:c.454G>A, NM_001185108.1:c.454G>T, NM_001185112.2:c.157G>A, NM_001185112.2:c.157G>T, NM_001185112.1:c.157G>A, NM_001185112.1:c.157G>T, NM_001185113.2:c.157G>A, NM_001185113.2:c.157G>T, NM_001185113.1:c.157G>A, NM_001185113.1:c.157G>T, NM_001185110.2:c.157G>A, NM_001185110.2:c.157G>T, NM_001185110.1:c.157G>A, NM_001185110.1:c.157G>T, XM_047434050.1:c.427G>A, XM_047434050.1:c.427G>T, XM_047434051.1:c.454G>A, XM_047434051.1:c.454G>T, XM_047434054.1:c.427G>A, XM_047434054.1:c.427G>T, XM_047434055.1:c.427G>A, XM_047434055.1:c.427G>T, NP_112155.2:p.Val242Met, NP_112155.2:p.Val242Leu, XP_011508435.1:p.Val242Met, XP_011508435.1:p.Val242Leu, NP_001036048.1:p.Val242Met, NP_001036048.1:p.Val242Leu, NP_001036049.1:p.Val242Met, NP_001036049.1:p.Val242Leu, NP_001036050.1:p.Val242Met, NP_001036050.1:p.Val242Leu, NP_001036051.1:p.Val53Met, NP_001036051.1:p.Val53Leu, NP_001036052.1:p.Val53Met, NP_001036052.1:p.Val53Leu, NP_001172036.1:p.Val152Met, NP_001172036.1:p.Val152Leu, NP_001172043.1:p.Val143Met, NP_001172043.1:p.Val143Leu, NP_001172044.1:p.Val152Met, NP_001172044.1:p.Val152Leu, NP_001172037.1:p.Val152Met, NP_001172037.1:p.Val152Leu, NP_001172041.1:p.Val53Met, NP_001172041.1:p.Val53Leu, NP_001172042.1:p.Val53Met, NP_001172042.1:p.Val53Leu, NP_001172039.1:p.Val53Met, NP_001172039.1:p.Val53Leu, XP_047290006.1:p.Val143Met, XP_047290006.1:p.Val143Leu, XP_047290007.1:p.Val152Met, XP_047290007.1:p.Val152Leu, XP_047290010.1:p.Val143Met, XP_047290010.1:p.Val143Leu, XP_047290011.1:p.Val143Met, XP_047290011.1:p.Val143Leu

Select item 141227303716.

rs1412273037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158356575 (GRCh38)
1:158326365 (GRCh37)
Canonical SPDI:: NC_000001.11:158356574:C:T
Gene:: CD1E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.158356575C>T, NC_000001.10:g.158326365C>T, NM_030893.4:c.982C>T, NM_030893.3:c.982C>T, XM_011510133.4:c.817C>T, XM_011510133.3:c.817C>T, XM_011510133.2:c.817C>T, XM_011510133.1:c.817C>T, NM_001042583.3:c.982C>T, NM_001042583.2:c.982C>T, NM_001042584.3:c.*5C>T, NM_001042584.2:c.*5C>T, NM_001042585.3:c.817C>T, NM_001042585.2:c.817C>T, NM_001042586.3:c.415C>T, NM_001042586.2:c.415C>T, NM_001042587.3:c.*5C>T, NM_001042587.2:c.*5C>T, NM_001185107.2:c.712C>T, NM_001185107.1:c.712C>T, NM_001185114.2:c.685C>T, NM_001185114.1:c.685C>T, NM_001185115.2:c.712C>T, NM_001185115.1:c.712C>T, NM_001185108.2:c.547C>T, NM_001185108.1:c.547C>T, NM_001185112.2:c.415C>T, NM_001185112.1:c.415C>T, NM_001185113.2:c.250C>T, NM_001185113.1:c.250C>T, NM_001185110.2:c.250C>T, NM_001185110.1:c.250C>T, XM_047434050.1:c.685C>T, XM_047434051.1:c.547C>T, XM_047434054.1:c.520C>T, XM_047434055.1:c.520C>T, NP_112155.2:p.Arg328Trp, XP_011508435.1:p.Arg273Trp, NP_001036048.1:p.Arg328Trp, NP_001036050.1:p.Arg273Trp, NP_001036051.1:p.Arg139Trp, NP_001172036.1:p.Arg238Trp, NP_001172043.1:p.Arg229Trp, NP_001172044.1:p.Arg238Trp, NP_001172037.1:p.Arg183Trp, NP_001172041.1:p.Arg139Trp, NP_001172042.1:p.Arg84Trp, NP_001172039.1:p.Arg84Trp, XP_047290006.1:p.Arg229Trp, XP_047290007.1:p.Arg183Trp, XP_047290010.1:p.Arg174Trp, XP_047290011.1:p.Arg174Trp

Select item 140531777817.

rs1405317778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:158354007 (GRCh38)
1:158323797 (GRCh37)
Canonical SPDI:: NC_000001.11:158354006:C:G
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158354007C>G, NC_000001.10:g.158323797C>G, NM_030893.4:c.19C>G, NM_030893.3:c.19C>G, XM_011510133.4:c.19C>G, XM_011510133.3:c.19C>G, XM_011510133.2:c.19C>G, XM_011510133.1:c.19C>G, NM_001042583.3:c.19C>G, NM_001042583.2:c.19C>G, NM_001042584.3:c.19C>G, NM_001042584.2:c.19C>G, NM_001042585.3:c.19C>G, NM_001042585.2:c.19C>G, NM_001042586.3:c.19C>G, NM_001042586.2:c.19C>G, NM_001042587.3:c.19C>G, NM_001042587.2:c.19C>G, NM_001185107.2:c.19C>G, NM_001185107.1:c.19C>G, NM_001185114.2:c.19C>G, NM_001185114.1:c.19C>G, NM_001185115.2:c.19C>G, NM_001185115.1:c.19C>G, NM_001185108.2:c.19C>G, NM_001185108.1:c.19C>G, NM_001185112.2:c.19C>G, NM_001185112.1:c.19C>G, NM_001185113.2:c.19C>G, NM_001185113.1:c.19C>G, NM_001185110.2:c.19C>G, NM_001185110.1:c.19C>G, XM_047434050.1:c.19C>G, XM_047434051.1:c.19C>G, XM_047434054.1:c.19C>G, XM_047434055.1:c.19C>G, NP_112155.2:p.Leu7Val, XP_011508435.1:p.Leu7Val, NP_001036048.1:p.Leu7Val, NP_001036049.1:p.Leu7Val, NP_001036050.1:p.Leu7Val, NP_001036051.1:p.Leu7Val, NP_001036052.1:p.Leu7Val, NP_001172036.1:p.Leu7Val, NP_001172043.1:p.Leu7Val, NP_001172044.1:p.Leu7Val, NP_001172037.1:p.Leu7Val, NP_001172041.1:p.Leu7Val, NP_001172042.1:p.Leu7Val, NP_001172039.1:p.Leu7Val, XP_047290006.1:p.Leu7Val, XP_047290007.1:p.Leu7Val, XP_047290010.1:p.Leu7Val, XP_047290011.1:p.Leu7Val

Select item 139465679118.

rs1394656791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:158356573 (GRCh38)
1:158326363 (GRCh37)
Canonical SPDI:: NC_000001.11:158356572:C:G
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.158356573C>G, NC_000001.10:g.158326363C>G, NM_030893.4:c.980C>G, NM_030893.3:c.980C>G, XM_011510133.4:c.815C>G, XM_011510133.3:c.815C>G, XM_011510133.2:c.815C>G, XM_011510133.1:c.815C>G, NM_001042583.3:c.980C>G, NM_001042583.2:c.980C>G, NM_001042584.3:c.*3C>G, NM_001042584.2:c.*3C>G, NM_001042585.3:c.815C>G, NM_001042585.2:c.815C>G, NM_001042586.3:c.413C>G, NM_001042586.2:c.413C>G, NM_001042587.3:c.*3C>G, NM_001042587.2:c.*3C>G, NM_001185107.2:c.710C>G, NM_001185107.1:c.710C>G, NM_001185114.2:c.683C>G, NM_001185114.1:c.683C>G, NM_001185115.2:c.710C>G, NM_001185115.1:c.710C>G, NM_001185108.2:c.545C>G, NM_001185108.1:c.545C>G, NM_001185112.2:c.413C>G, NM_001185112.1:c.413C>G, NM_001185113.2:c.248C>G, NM_001185113.1:c.248C>G, NM_001185110.2:c.248C>G, NM_001185110.1:c.248C>G, XM_047434050.1:c.683C>G, XM_047434051.1:c.545C>G, XM_047434054.1:c.518C>G, XM_047434055.1:c.518C>G, NP_112155.2:p.Ser327Ter, XP_011508435.1:p.Ser272Ter, NP_001036048.1:p.Ser327Ter, NP_001036050.1:p.Ser272Ter, NP_001036051.1:p.Ser138Ter, NP_001172036.1:p.Ser237Ter, NP_001172043.1:p.Ser228Ter, NP_001172044.1:p.Ser237Ter, NP_001172037.1:p.Ser182Ter, NP_001172041.1:p.Ser138Ter, NP_001172042.1:p.Ser83Ter, NP_001172039.1:p.Ser83Ter, XP_047290006.1:p.Ser228Ter, XP_047290007.1:p.Ser182Ter, XP_047290010.1:p.Ser173Ter, XP_047290011.1:p.Ser173Ter

Select item 138977626619.

rs1389776266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158355880 (GRCh38)
1:158325670 (GRCh37)
Canonical SPDI:: NC_000001.11:158355879:C:T
Gene:: CD1E (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158355880C>T, NC_000001.10:g.158325670C>T, NM_030893.4:c.679C>T, NM_030893.3:c.679C>T, XM_011510133.4:c.679C>T, XM_011510133.3:c.679C>T, XM_011510133.2:c.679C>T, XM_011510133.1:c.679C>T, NM_001042583.3:c.679C>T, NM_001042583.2:c.679C>T, NM_001042584.3:c.679C>T, NM_001042584.2:c.679C>T, NM_001042585.3:c.679C>T, NM_001042585.2:c.679C>T, NM_001042586.3:c.112C>T, NM_001042586.2:c.112C>T, NM_001042587.3:c.112C>T, NM_001042587.2:c.112C>T, NM_001185107.2:c.409C>T, NM_001185107.1:c.409C>T, NM_001185114.2:c.382C>T, NM_001185114.1:c.382C>T, NM_001185115.2:c.409C>T, NM_001185115.1:c.409C>T, NM_001185108.2:c.409C>T, NM_001185108.1:c.409C>T, NM_001185112.2:c.112C>T, NM_001185112.1:c.112C>T, NM_001185113.2:c.112C>T, NM_001185113.1:c.112C>T, NM_001185110.2:c.112C>T, NM_001185110.1:c.112C>T, XM_047434050.1:c.382C>T, XM_047434051.1:c.409C>T, XM_047434054.1:c.382C>T, XM_047434055.1:c.382C>T, NP_112155.2:p.Gln227Ter, XP_011508435.1:p.Gln227Ter, NP_001036048.1:p.Gln227Ter, NP_001036049.1:p.Gln227Ter, NP_001036050.1:p.Gln227Ter, NP_001036051.1:p.Gln38Ter, NP_001036052.1:p.Gln38Ter, NP_001172036.1:p.Gln137Ter, NP_001172043.1:p.Gln128Ter, NP_001172044.1:p.Gln137Ter, NP_001172037.1:p.Gln137Ter, NP_001172041.1:p.Gln38Ter, NP_001172042.1:p.Gln38Ter, NP_001172039.1:p.Gln38Ter, XP_047290006.1:p.Gln128Ter, XP_047290007.1:p.Gln137Ter, XP_047290010.1:p.Gln128Ter, XP_047290011.1:p.Gln128Ter

Select item 137723640420.

rs1377236404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:158356783 (GRCh38)
1:158326573 (GRCh37)
Canonical SPDI:: NC_000001.11:158356782:G:A
Gene:: CD1E (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_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=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.158356783G>A, NC_000001.10:g.158326573G>A, NM_030893.4:c.1054G>A, NM_030893.3:c.1054G>A, XM_011510133.4:c.889G>A, XM_011510133.3:c.889G>A, XM_011510133.2:c.889G>A, XM_011510133.1:c.889G>A, NM_001042583.3:c.1018G>A, NM_001042583.2:c.1018G>A, NM_001042584.3:c.*77G>A, NM_001042584.2:c.*77G>A, NM_001042585.3:c.853G>A, NM_001042585.2:c.853G>A, NM_001042586.3:c.451G>A, NM_001042586.2:c.451G>A, NM_001042587.3:c.*77G>A, NM_001042587.2:c.*77G>A, NM_001185107.2:c.784G>A, NM_001185107.1:c.784G>A, NM_001185114.2:c.757G>A, NM_001185114.1:c.757G>A, NM_001185115.2:c.748G>A, NM_001185115.1:c.748G>A, NM_001185108.2:c.583G>A, NM_001185108.1:c.583G>A, NM_001185112.2:c.487G>A, NM_001185112.1:c.487G>A, NM_001185113.2:c.322G>A, NM_001185113.1:c.322G>A, NM_001185110.2:c.286G>A, NM_001185110.1:c.286G>A, XM_047434050.1:c.721G>A, XM_047434051.1:c.619G>A, XM_047434054.1:c.592G>A, XM_047434055.1:c.556G>A, NP_112155.2:p.Ala352Thr, XP_011508435.1:p.Ala297Thr, NP_001036048.1:p.Ala340Thr, NP_001036050.1:p.Ala285Thr, NP_001036051.1:p.Ala151Thr, NP_001172036.1:p.Ala262Thr, NP_001172043.1:p.Ala253Thr, NP_001172044.1:p.Ala250Thr, NP_001172037.1:p.Ala195Thr, NP_001172041.1:p.Ala163Thr, NP_001172042.1:p.Ala108Thr, NP_001172039.1:p.Ala96Thr, XP_047290006.1:p.Ala241Thr, XP_047290007.1:p.Ala207Thr, XP_047290010.1:p.Ala198Thr, XP_047290011.1:p.Ala186Thr

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