SNP Links for Protein (Select 1034568489) - SNP - NCBI

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

Links from Protein

Items: 1 to 20 of 273

<< First< Prev

Page of 14

Select item 14870495231.

rs1487049523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:89639227 (GRCh38)
10:91398984 (GRCh37)
Canonical SPDI:: NC_000010.11:89639226:A:C
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.89639227A>C, NC_000010.10:g.91398984A>C, NG_029474.1:g.11346T>G, XM_017016333.3:c.31T>G, XM_017016333.2:c.31T>G, XM_017016333.1:c.31T>G, XP_016871822.1:p.Phe11Val

Select item 14767664342.

rs1476766434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:89588677 (GRCh38)
10:91348434 (GRCh37)
Canonical SPDI:: NC_000010.11:89588676:A:G,NC_000010.11:89588676:A:T
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.89588677A>G, NC_000010.11:g.89588677A>T, NC_000010.10:g.91348434A>G, NC_000010.10:g.91348434A>T, NG_029474.1:g.61896T>C, NG_029474.1:g.61896T>A, NM_138316.4:c.860T>C, NM_138316.4:c.860T>A, NM_138316.3:c.860T>C, NM_138316.3:c.860T>A, NM_148978.3:c.1037T>C, NM_148978.3:c.1037T>A, NM_148978.2:c.1037T>C, NM_148978.2:c.1037T>A, NM_148977.3:c.1301T>C, NM_148977.3:c.1301T>A, NM_148977.2:c.1712T>C, NM_148977.2:c.1712T>A, XM_017016333.3:c.1118T>C, XM_017016333.3:c.1118T>A, XM_017016333.2:c.1118T>C, XM_017016333.2:c.1118T>A, XM_017016333.1:c.1118T>C, XM_017016333.1:c.1118T>A, XM_017016334.2:c.1082T>C, XM_017016334.2:c.1082T>A, XM_017016334.1:c.1082T>C, XM_017016334.1:c.1082T>A, XM_017016336.2:c.1025T>C, XM_017016336.2:c.1025T>A, XM_017016336.1:c.1025T>C, XM_017016336.1:c.1025T>A, XM_047425354.1:c.1031T>C, XM_047425354.1:c.1031T>A, NP_612189.2:p.Leu287Pro, NP_612189.2:p.Leu287Gln, NP_683879.1:p.Leu346Pro, NP_683879.1:p.Leu346Gln, NP_683878.2:p.Leu434Pro, NP_683878.2:p.Leu434Gln, XP_016871822.1:p.Leu373Pro, XP_016871822.1:p.Leu373Gln, XP_016871823.1:p.Leu361Pro, XP_016871823.1:p.Leu361Gln, XP_016871825.1:p.Leu342Pro, XP_016871825.1:p.Leu342Gln, XP_047281310.1:p.Leu344Pro, XP_047281310.1:p.Leu344Gln

Select item 14737667423.

rs1473766742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89584435 (GRCh38)
10:91344192 (GRCh37)
Canonical SPDI:: NC_000010.11:89584434:C:T
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89584435C>T, NC_000010.10:g.91344192C>T, NG_029474.1:g.66138G>A, NM_138316.4:c.916G>A, NM_138316.3:c.916G>A, NM_148978.3:c.1093G>A, NM_148978.2:c.1093G>A, NM_148977.3:c.1357G>A, NM_148977.2:c.1768G>A, XM_017016333.3:c.1174G>A, XM_017016333.2:c.1174G>A, XM_017016333.1:c.1174G>A, XM_017016334.2:c.1138G>A, XM_017016334.1:c.1138G>A, XM_017016336.2:c.1081G>A, XM_017016336.1:c.1081G>A, XM_047425354.1:c.1087G>A, NP_612189.2:p.Glu306Lys, NP_683879.1:p.Glu365Lys, NP_683878.2:p.Glu453Lys, XP_016871822.1:p.Glu392Lys, XP_016871823.1:p.Glu380Lys, XP_016871825.1:p.Glu361Lys, XP_047281310.1:p.Glu363Lys

Select item 14702344424.

rs1470234442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:89611701 (GRCh38)
10:91371458 (GRCh37)
Canonical SPDI:: NC_000010.11:89611700:T:C
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.89611701T>C, NC_000010.10:g.91371458T>C, NG_029474.1:g.38872A>G, NM_138316.4:c.376A>G, NM_138316.3:c.376A>G, NM_148978.3:c.376A>G, NM_148978.2:c.376A>G, NM_148977.3:c.640A>G, NM_148977.2:c.1051A>G, XM_017016333.3:c.457A>G, XM_017016333.2:c.457A>G, XM_017016333.1:c.457A>G, XM_017016334.2:c.421A>G, XM_017016334.1:c.421A>G, XM_017016336.2:c.364A>G, XM_017016336.1:c.364A>G, XM_047425354.1:c.370A>G, NP_612189.2:p.Arg126Gly, NP_683879.1:p.Arg126Gly, NP_683878.2:p.Arg214Gly, XP_016871822.1:p.Arg153Gly, XP_016871823.1:p.Arg141Gly, XP_016871825.1:p.Arg122Gly, XP_047281310.1:p.Arg124Gly

Select item 14686696155.

rs1468669615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:89639185 (GRCh38)
10:91398942 (GRCh37)
Canonical SPDI:: NC_000010.11:89639184:G:T
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.89639185G>T, NC_000010.10:g.91398942G>T, NG_029474.1:g.11388C>A, XM_017016333.3:c.73C>A, XM_017016333.2:c.73C>A, XM_017016333.1:c.73C>A, XM_017016334.2:c.37C>A, XM_017016334.1:c.37C>A, XP_016871822.1:p.Gln25Lys, XP_016871823.1:p.Gln13Lys

Select item 14652024586.

rs1465202458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:89599297 (GRCh38)
10:91359054 (GRCh37)
Canonical SPDI:: NC_000010.11:89599296:A:G
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89599297A>G, NC_000010.10:g.91359054A>G, NG_029474.1:g.51276T>C, NM_138316.4:c.590T>C, NM_138316.3:c.590T>C, NM_148978.3:c.590T>C, NM_148978.2:c.590T>C, NM_148977.3:c.854T>C, NM_148977.2:c.1265T>C, XM_017016333.3:c.671T>C, XM_017016333.2:c.671T>C, XM_017016333.1:c.671T>C, XM_017016334.2:c.635T>C, XM_017016334.1:c.635T>C, XM_017016336.2:c.578T>C, XM_017016336.1:c.578T>C, XM_047425354.1:c.584T>C, NP_612189.2:p.Leu197Pro, NP_683879.1:p.Leu197Pro, NP_683878.2:p.Leu285Pro, XP_016871822.1:p.Leu224Pro, XP_016871823.1:p.Leu212Pro, XP_016871825.1:p.Leu193Pro, XP_047281310.1:p.Leu195Pro

Select item 14546161107.

rs1454616110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:89599271 (GRCh38)
10:91359028 (GRCh37)
Canonical SPDI:: NC_000010.11:89599270:T:C
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.89599271T>C, NC_000010.10:g.91359028T>C, NG_029474.1:g.51302A>G, NM_138316.4:c.616A>G, NM_138316.3:c.616A>G, NM_148978.3:c.616A>G, NM_148978.2:c.616A>G, NM_148977.3:c.880A>G, NM_148977.2:c.1291A>G, XM_017016333.3:c.697A>G, XM_017016333.2:c.697A>G, XM_017016333.1:c.697A>G, XM_017016334.2:c.661A>G, XM_017016334.1:c.661A>G, XM_017016336.2:c.604A>G, XM_017016336.1:c.604A>G, XM_047425354.1:c.610A>G, NP_612189.2:p.Lys206Glu, NP_683879.1:p.Lys206Glu, NP_683878.2:p.Lys294Glu, XP_016871822.1:p.Lys233Glu, XP_016871823.1:p.Lys221Glu, XP_016871825.1:p.Lys202Glu, XP_047281310.1:p.Lys204Glu

Select item 14462593438.

rs1446259343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:89593888 (GRCh38)
10:91353645 (GRCh37)
Canonical SPDI:: NC_000010.11:89593887:A:G
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89593888A>G, NC_000010.10:g.91353645A>G, NG_029474.1:g.56685T>C, NM_148978.3:c.737T>C, NM_148978.2:c.737T>C, NM_148977.3:c.1001T>C, NM_148977.2:c.1412T>C, XM_017016333.3:c.818T>C, XM_017016333.2:c.818T>C, XM_017016333.1:c.818T>C, XM_017016334.2:c.782T>C, XM_017016334.1:c.782T>C, XM_017016336.2:c.725T>C, XM_017016336.1:c.725T>C, XM_047425354.1:c.731T>C, NP_683879.1:p.Val246Ala, NP_683878.2:p.Val334Ala, XP_016871822.1:p.Val273Ala, XP_016871823.1:p.Val261Ala, XP_016871825.1:p.Val242Ala, XP_047281310.1:p.Val244Ala

Select item 14422047959.

rs1442204795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:89593836 (GRCh38)
10:91353593 (GRCh37)
Canonical SPDI:: NC_000010.11:89593835:A:C,NC_000010.11:89593835:A:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89593836A>C, NC_000010.11:g.89593836A>T, NC_000010.10:g.91353593A>C, NC_000010.10:g.91353593A>T, NG_029474.1:g.56737T>G, NG_029474.1:g.56737T>A, NM_148978.3:c.789T>G, NM_148978.3:c.789T>A, NM_148978.2:c.789T>G, NM_148978.2:c.789T>A, NM_148977.3:c.1053T>G, NM_148977.3:c.1053T>A, NM_148977.2:c.1464T>G, NM_148977.2:c.1464T>A, XM_017016333.3:c.870T>G, XM_017016333.3:c.870T>A, XM_017016333.2:c.870T>G, XM_017016333.2:c.870T>A, XM_017016333.1:c.870T>G, XM_017016333.1:c.870T>A, XM_017016334.2:c.834T>G, XM_017016334.2:c.834T>A, XM_017016334.1:c.834T>G, XM_017016334.1:c.834T>A, XM_017016336.2:c.777T>G, XM_017016336.2:c.777T>A, XM_017016336.1:c.777T>G, XM_017016336.1:c.777T>A, XM_047425354.1:c.783T>G, XM_047425354.1:c.783T>A

Select item 143824053110.

rs1438240531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:89593306 (GRCh38)
10:91353063 (GRCh37)
Canonical SPDI:: NC_000010.11:89593305:A:G
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89593306A>G, NC_000010.10:g.91353063A>G, NG_029474.1:g.57267T>C, NM_138316.4:c.650T>C, NM_138316.3:c.650T>C, NM_148978.3:c.827T>C, NM_148978.2:c.827T>C, NM_148977.3:c.1091T>C, NM_148977.2:c.1502T>C, XM_017016333.3:c.908T>C, XM_017016333.2:c.908T>C, XM_017016333.1:c.908T>C, XM_017016334.2:c.872T>C, XM_017016334.1:c.872T>C, XM_017016336.2:c.815T>C, XM_017016336.1:c.815T>C, XM_047425354.1:c.821T>C, NP_612189.2:p.Met217Thr, NP_683879.1:p.Met276Thr, NP_683878.2:p.Met364Thr, XP_016871822.1:p.Met303Thr, XP_016871823.1:p.Met291Thr, XP_016871825.1:p.Met272Thr, XP_047281310.1:p.Met274Thr

Select item 143636564311.

rs1436365643 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCT>- [Show Flanks]
Chromosome:: 10:89588769 (GRCh38)
10:91348526 (GRCh37)
Canonical SPDI:: NC_000010.11:89588765:TCTGTCT:TCT
Gene:: PANK1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000010.11:g.89588769_89588772del, NC_000010.10:g.91348526_91348529del, NG_029474.1:g.61804_61807del, NM_138316.4:c.768_771del, NM_138316.3:c.768_771del, NM_148978.3:c.945_948del, NM_148978.2:c.945_948del, NM_148977.3:c.1209_1212del, NM_148977.2:c.1620_1623del, XM_017016333.3:c.1026_1029del, XM_017016333.2:c.1026_1029del, XM_017016333.1:c.1026_1029del, XM_017016334.2:c.990_993del, XM_017016334.1:c.990_993del, XM_017016336.2:c.933_936del, XM_017016336.1:c.933_936del, XM_047425354.1:c.939_942del, NP_612189.2:p.Asp256fs, NP_683879.1:p.Asp315fs, NP_683878.2:p.Asp403fs, XP_016871822.1:p.Asp342fs, XP_016871823.1:p.Asp330fs, XP_016871825.1:p.Asp311fs, XP_047281310.1:p.Asp313fs

Select item 143476342112.

rs1434763421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:89611985 (GRCh38)
10:91371742 (GRCh37)
Canonical SPDI:: NC_000010.11:89611984:T:G
Gene:: PANK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.89611985T>G, NC_000010.10:g.91371742T>G, NG_029474.1:g.38588A>C, NM_138316.4:c.92A>C, NM_138316.3:c.92A>C, NM_148978.3:c.92A>C, NM_148978.2:c.92A>C, NM_148977.3:c.356A>C, NM_148977.2:c.767A>C, XM_017016333.3:c.173A>C, XM_017016333.2:c.173A>C, XM_017016333.1:c.173A>C, XM_017016334.2:c.137A>C, XM_017016334.1:c.137A>C, XM_017016336.2:c.80A>C, XM_017016336.1:c.80A>C, XM_047425354.1:c.86A>C, NP_612189.2:p.Lys31Thr, NP_683879.1:p.Lys31Thr, NP_683878.2:p.Lys119Thr, XP_016871822.1:p.Lys58Thr, XP_016871823.1:p.Lys46Thr, XP_016871825.1:p.Lys27Thr, XP_047281310.1:p.Lys29Thr

Select item 143009552813.

rs1430095528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:89584449 (GRCh38)
10:91344206 (GRCh37)
Canonical SPDI:: NC_000010.11:89584448:A:G
Gene:: PANK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89584449A>G, NC_000010.10:g.91344206A>G, NG_029474.1:g.66124T>C, NM_138316.4:c.902T>C, NM_138316.3:c.902T>C, NM_148978.3:c.1079T>C, NM_148978.2:c.1079T>C, NM_148977.3:c.1343T>C, NM_148977.2:c.1754T>C, XM_017016333.3:c.1160T>C, XM_017016333.2:c.1160T>C, XM_017016333.1:c.1160T>C, XM_017016334.2:c.1124T>C, XM_017016334.1:c.1124T>C, XM_017016336.2:c.1067T>C, XM_017016336.1:c.1067T>C, XM_047425354.1:c.1073T>C, NP_612189.2:p.Val301Ala, NP_683879.1:p.Val360Ala, NP_683878.2:p.Val448Ala, XP_016871822.1:p.Val387Ala, XP_016871823.1:p.Val375Ala, XP_016871825.1:p.Val356Ala, XP_047281310.1:p.Val358Ala

Select item 142831162714.

rs1428311627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89593212 (GRCh38)
10:91352969 (GRCh37)
Canonical SPDI:: NC_000010.11:89593211:C:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.89593212C>T, NC_000010.10:g.91352969C>T, NG_029474.1:g.57361G>A, NM_138316.4:c.744G>A, NM_138316.3:c.744G>A, NM_148978.3:c.921G>A, NM_148978.2:c.921G>A, NM_148977.3:c.1185G>A, NM_148977.2:c.1596G>A, XM_017016333.3:c.1002G>A, XM_017016333.2:c.1002G>A, XM_017016333.1:c.1002G>A, XM_017016334.2:c.966G>A, XM_017016334.1:c.966G>A, XM_017016336.2:c.909G>A, XM_017016336.1:c.909G>A, XM_047425354.1:c.915G>A, NP_612189.2:p.Met248Ile, NP_683879.1:p.Met307Ile, NP_683878.2:p.Met395Ile, XP_016871822.1:p.Met334Ile, XP_016871823.1:p.Met322Ile, XP_016871825.1:p.Met303Ile, XP_047281310.1:p.Met305Ile

Select item 142422318215.

rs1424223182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:89599467 (GRCh38)
10:91359224 (GRCh37)
Canonical SPDI:: NC_000010.11:89599466:G:C
Gene:: PANK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89599467G>C, NC_000010.10:g.91359224G>C, NG_029474.1:g.51106C>G, NM_138316.4:c.420C>G, NM_138316.3:c.420C>G, NM_148978.3:c.420C>G, NM_148978.2:c.420C>G, NM_148977.3:c.684C>G, NM_148977.2:c.1095C>G, XM_017016333.3:c.501C>G, XM_017016333.2:c.501C>G, XM_017016333.1:c.501C>G, XM_017016334.2:c.465C>G, XM_017016334.1:c.465C>G, XM_017016336.2:c.408C>G, XM_017016336.1:c.408C>G, XM_047425354.1:c.414C>G, NP_612189.2:p.Asp140Glu, NP_683879.1:p.Asp140Glu, NP_683878.2:p.Asp228Glu, XP_016871822.1:p.Asp167Glu, XP_016871823.1:p.Asp155Glu, XP_016871825.1:p.Asp136Glu, XP_047281310.1:p.Asp138Glu

Select item 141424851516.

rs1414248515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89593251 (GRCh38)
10:91353008 (GRCh37)
Canonical SPDI:: NC_000010.11:89593250:C:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.89593251C>T, NC_000010.10:g.91353008C>T, NG_029474.1:g.57322G>A, NM_138316.4:c.705G>A, NM_138316.3:c.705G>A, NM_148978.3:c.882G>A, NM_148978.2:c.882G>A, NM_148977.3:c.1146G>A, NM_148977.2:c.1557G>A, XM_017016333.3:c.963G>A, XM_017016333.2:c.963G>A, XM_017016333.1:c.963G>A, XM_017016334.2:c.927G>A, XM_017016334.1:c.927G>A, XM_017016336.2:c.870G>A, XM_017016336.1:c.870G>A, XM_047425354.1:c.876G>A

Select item 140695738017.

rs1406957380 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:89643702 (GRCh38)
10:91403459 (GRCh37)
Canonical SPDI:: NC_000010.11:89643701:TTTTT:TTTT
Gene:: PANK1 (Varview), PANK1-AS1 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.89643706del, NC_000010.10:g.91403463del, NG_029474.1:g.6871del, NM_138316.4:c.23del, NM_138316.3:c.23del, NM_148978.3:c.23del, NM_148978.2:c.23del, XM_017016333.3:c.10del, XM_017016333.2:c.10del, XM_017016333.1:c.10del, XM_017016334.2:c.10del, XM_017016334.1:c.10del, NP_612189.2:p.Lys8fs, NP_683879.1:p.Lys8fs, XP_016871822.1:p.Ser4fs, XP_016871823.1:p.Ser4fs

Select item 140619278018.

rs1406192780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89611893 (GRCh38)
10:91371650 (GRCh37)
Canonical SPDI:: NC_000010.11:89611892:C:T
Gene:: PANK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89611893C>T, NC_000010.10:g.91371650C>T, NG_029474.1:g.38680G>A, NM_138316.4:c.184G>A, NM_138316.3:c.184G>A, NM_148978.3:c.184G>A, NM_148978.2:c.184G>A, NM_148977.3:c.448G>A, NM_148977.2:c.859G>A, XM_017016333.3:c.265G>A, XM_017016333.2:c.265G>A, XM_017016333.1:c.265G>A, XM_017016334.2:c.229G>A, XM_017016334.1:c.229G>A, XM_017016336.2:c.172G>A, XM_017016336.1:c.172G>A, XM_047425354.1:c.178G>A, NP_612189.2:p.Gly62Arg, NP_683879.1:p.Gly62Arg, NP_683878.2:p.Gly150Arg, XP_016871822.1:p.Gly89Arg, XP_016871823.1:p.Gly77Arg, XP_016871825.1:p.Gly58Arg, XP_047281310.1:p.Gly60Arg

Select item 139502623419.

rs1395026234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:89611945 (GRCh38)
10:91371702 (GRCh37)
Canonical SPDI:: NC_000010.11:89611944:G:A
Gene:: PANK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.89611945G>A, NC_000010.10:g.91371702G>A, NG_029474.1:g.38628C>T, NM_138316.4:c.132C>T, NM_138316.3:c.132C>T, NM_148978.3:c.132C>T, NM_148978.2:c.132C>T, NM_148977.3:c.396C>T, NM_148977.2:c.807C>T, XM_017016333.3:c.213C>T, XM_017016333.2:c.213C>T, XM_017016333.1:c.213C>T, XM_017016334.2:c.177C>T, XM_017016334.1:c.177C>T, XM_017016336.2:c.120C>T, XM_017016336.1:c.120C>T, XM_047425354.1:c.126C>T

Select item 139502102920.

rs1395021029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:89599432 (GRCh38)
10:91359189 (GRCh37)
Canonical SPDI:: NC_000010.11:89599431:A:G
Gene:: PANK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.89599432A>G, NC_000010.10:g.91359189A>G, NG_029474.1:g.51141T>C, NM_138316.4:c.455T>C, NM_138316.3:c.455T>C, NM_148978.3:c.455T>C, NM_148978.2:c.455T>C, NM_148977.3:c.719T>C, NM_148977.2:c.1130T>C, XM_017016333.3:c.536T>C, XM_017016333.2:c.536T>C, XM_017016333.1:c.536T>C, XM_017016334.2:c.500T>C, XM_017016334.1:c.500T>C, XM_017016336.2:c.443T>C, XM_017016336.1:c.443T>C, XM_047425354.1:c.449T>C, NP_612189.2:p.Val152Ala, NP_683879.1:p.Val152Ala, NP_683878.2:p.Val240Ala, XP_016871822.1:p.Val179Ala, XP_016871823.1:p.Val167Ala, XP_016871825.1:p.Val148Ala, XP_047281310.1:p.Val150Ala

<< First< Prev

Page of 14

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 1034568489) (273)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...