SNP Links for Protein (Select 1034675032) - SNP

Select item 14889611151.

rs1488961115 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: Y:57087027 (GRCh38)
Y:59233178 (GRCh37)
Canonical SPDI:: NC_000024.10:57087027:T:TT
Gene:: VAMP7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000024.10:g.57087028dup, NC_000024.9:g.59233178dup, NG_021435.2:g.24165dup, NG_021435.1:g.24230dup, NM_005638.6:c.354dup, NM_005638.5:c.354dup, NM_001145149.3:c.231dup, NM_001145149.2:c.231dup, NR_033714.2:n.409dup, NR_033714.1:n.474dup, NR_033715.2:n.402dup, NR_033715.1:n.467dup, NM_001185183.2:c.354dup, NM_001185183.1:c.354dup, NC_000023.11:g.155900508dup, NC_000023.10:g.155130172dup, XM_017029760.2:c.213dup, XM_017029760.1:c.213dup, XM_011531188.2:c.213dup, XM_011531188.1:c.213dup, XM_017030063.2:c.213dup, XM_017030063.1:c.213dup, XM_011545653.2:c.213dup, XM_011545653.1:c.213dup, NP_005629.1:p.Glu119Ter, NP_001138621.1:p.Glu78Ter, NP_001172112.1:p.Glu119Ter, XP_016885552.1:p.Glu72Ter, XP_011543955.1:p.Glu72Ter

Select item 14847204852.

rs1484720485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:57084682 (GRCh38)
Y:59230832 (GRCh37)
Canonical SPDI:: NC_000024.10:57084681:G:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.57084682G>T, NC_000024.9:g.59230832G>T, NG_021435.2:g.21819G>T, NG_021435.1:g.21884G>T, NM_005638.6:c.255G>T, NM_005638.5:c.255G>T, NM_001145149.3:c.132G>T, NM_001145149.2:c.132G>T, NR_033714.2:n.310G>T, NR_033714.1:n.375G>T, NR_033715.2:n.303G>T, NR_033715.1:n.368G>T, NM_001185183.2:c.255G>T, NM_001185183.1:c.255G>T, NC_000023.11:g.155898162G>T, NC_000023.10:g.155127826G>T, XM_017029760.2:c.114G>T, XM_017029760.1:c.114G>T, XM_011531188.2:c.114G>T, XM_011531188.1:c.114G>T, XM_017030063.2:c.114G>T, XM_017030063.1:c.114G>T, XM_011545653.2:c.114G>T, XM_011545653.1:c.114G>T, NP_005629.1:p.Arg85Ser, NP_001138621.1:p.Arg44Ser, NP_001172112.1:p.Arg85Ser, XP_016885552.1:p.Arg38Ser, XP_011543955.1:p.Arg38Ser

Select item 14752990313.

rs1475299031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:57126313 (GRCh38)
Y:59272463 (GRCh37)
Canonical SPDI:: NC_000024.10:57126312:T:C
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57126313T>C, NC_000024.9:g.59272463T>C, NG_021435.2:g.63450T>C, NG_021435.1:g.63515T>C, NM_005638.6:c.594T>C, NM_005638.5:c.594T>C, NM_001145149.3:c.471T>C, NM_001145149.2:c.471T>C, NR_033714.2:n.649T>C, NR_033714.1:n.714T>C, NR_033715.2:n.642T>C, NR_033715.1:n.707T>C, NM_001185183.2:c.526T>C, NM_001185183.1:c.526T>C, NC_000023.11:g.155939793T>C, NC_000023.10:g.155169457T>C, XM_017029760.2:c.453T>C, XM_017029760.1:c.453T>C, XM_011531188.2:c.385T>C, XM_011531188.1:c.385T>C, XM_017030063.2:c.453T>C, XM_017030063.1:c.453T>C, XM_011545653.2:c.385T>C, XM_011545653.1:c.385T>C, NP_001172112.1:p.Cys176Arg, XP_011543955.1:p.Cys129Arg

Select item 14743143814.

rs1474314381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: Y:57087072 (GRCh38)
Y:59233222 (GRCh37)
Canonical SPDI:: NC_000024.10:57087071:T:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57087072T>G, NC_000024.9:g.59233222T>G, NG_021435.2:g.24209T>G, NG_021435.1:g.24274T>G, NM_005638.6:c.398T>G, NM_005638.5:c.398T>G, NM_001145149.3:c.275T>G, NM_001145149.2:c.275T>G, NR_033714.2:n.453T>G, NR_033714.1:n.518T>G, NR_033715.2:n.446T>G, NR_033715.1:n.511T>G, NM_001185183.2:c.398T>G, NM_001185183.1:c.398T>G, NC_000023.11:g.155900552T>G, NC_000023.10:g.155130216T>G, XM_017029760.2:c.257T>G, XM_017029760.1:c.257T>G, XM_011531188.2:c.257T>G, XM_011531188.1:c.257T>G, XM_017030063.2:c.257T>G, XM_017030063.1:c.257T>G, XM_011545653.2:c.257T>G, XM_011545653.1:c.257T>G, NP_005629.1:p.Val133Gly, NP_001138621.1:p.Val92Gly, NP_001172112.1:p.Val133Gly, XP_016885552.1:p.Val86Gly, XP_011543955.1:p.Val86Gly

Select item 14392237785.

rs1439223778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:57084740 (GRCh38)
Y:59230890 (GRCh37)
Canonical SPDI:: NC_000024.10:57084739:G:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57084740G>A, NC_000024.9:g.59230890G>A, NG_021435.2:g.21877G>A, NG_021435.1:g.21942G>A, NM_005638.6:c.313G>A, NM_005638.5:c.313G>A, NM_001145149.3:c.190G>A, NM_001145149.2:c.190G>A, NR_033714.2:n.368G>A, NR_033714.1:n.433G>A, NR_033715.2:n.361G>A, NR_033715.1:n.426G>A, NM_001185183.2:c.313G>A, NM_001185183.1:c.313G>A, NC_000023.11:g.155898220G>A, NC_000023.10:g.155127884G>A, XM_017029760.2:c.172G>A, XM_017029760.1:c.172G>A, XM_011531188.2:c.172G>A, XM_011531188.1:c.172G>A, XM_017030063.2:c.172G>A, XM_017030063.1:c.172G>A, XM_011545653.2:c.172G>A, XM_011545653.1:c.172G>A, NP_005629.1:p.Glu105Lys, NP_001138621.1:p.Glu64Lys, NP_001172112.1:p.Glu105Lys, XP_016885552.1:p.Glu58Lys, XP_011543955.1:p.Glu58Lys

Select item 14316041886.

rs1431604188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:57084646 (GRCh38)
Y:59230796 (GRCh37)
Canonical SPDI:: NC_000024.10:57084645:C:T
Gene:: VAMP7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000024.10:g.57084646C>T, NC_000024.9:g.59230796C>T, NG_021435.2:g.21783C>T, NG_021435.1:g.21848C>T, NM_005638.6:c.219C>T, NM_005638.5:c.219C>T, NM_001145149.3:c.96C>T, NM_001145149.2:c.96C>T, NR_033714.2:n.274C>T, NR_033714.1:n.339C>T, NR_033715.2:n.267C>T, NR_033715.1:n.332C>T, NM_001185183.2:c.219C>T, NM_001185183.1:c.219C>T, NC_000023.11:g.155898126C>T, NC_000023.10:g.155127790C>T, XM_017029760.2:c.78C>T, XM_017029760.1:c.78C>T, XM_011531188.2:c.78C>T, XM_011531188.1:c.78C>T, XM_017030063.2:c.78C>T, XM_017030063.1:c.78C>T, XM_011545653.2:c.78C>T, XM_011545653.1:c.78C>T

Select item 14195587657.

rs1419558765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:57126311 (GRCh38)
Y:59272461 (GRCh37)
Canonical SPDI:: NC_000024.10:57126310:A:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57126311A>G, NC_000024.9:g.59272461A>G, NG_021435.2:g.63448A>G, NG_021435.1:g.63513A>G, NM_005638.6:c.592A>G, NM_005638.5:c.592A>G, NM_001145149.3:c.469A>G, NM_001145149.2:c.469A>G, NR_033714.2:n.647A>G, NR_033714.1:n.712A>G, NR_033715.2:n.640A>G, NR_033715.1:n.705A>G, NM_001185183.2:c.524A>G, NM_001185183.1:c.524A>G, NC_000023.11:g.155939791A>G, NC_000023.10:g.155169455A>G, XM_017029760.2:c.451A>G, XM_017029760.1:c.451A>G, XM_011531188.2:c.383A>G, XM_011531188.1:c.383A>G, XM_017030063.2:c.451A>G, XM_017030063.1:c.451A>G, XM_011545653.2:c.383A>G, XM_011545653.1:c.383A>G, NP_005629.1:p.Ile198Val, NP_001138621.1:p.Ile157Val, NP_001172112.1:p.Asn175Ser, XP_016885552.1:p.Ile151Val, XP_011543955.1:p.Asn128Ser

Select item 14019617058.

rs1401961705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:57084719 (GRCh38)
Y:59230869 (GRCh37)
Canonical SPDI:: NC_000024.10:57084718:C:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.57084719C>G, NC_000024.9:g.59230869C>G, NG_021435.2:g.21856C>G, NG_021435.1:g.21921C>G, NM_005638.6:c.292C>G, NM_005638.5:c.292C>G, NM_001145149.3:c.169C>G, NM_001145149.2:c.169C>G, NR_033714.2:n.347C>G, NR_033714.1:n.412C>G, NR_033715.2:n.340C>G, NR_033715.1:n.405C>G, NM_001185183.2:c.292C>G, NM_001185183.1:c.292C>G, NC_000023.11:g.155898199C>G, NC_000023.10:g.155127863C>G, XM_017029760.2:c.151C>G, XM_017029760.1:c.151C>G, XM_011531188.2:c.151C>G, XM_011531188.1:c.151C>G, XM_017030063.2:c.151C>G, XM_017030063.1:c.151C>G, XM_011545653.2:c.151C>G, XM_011545653.1:c.151C>G, NP_005629.1:p.Leu98Val, NP_001138621.1:p.Leu57Val, NP_001172112.1:p.Leu98Val, XP_016885552.1:p.Leu51Val, XP_011543955.1:p.Leu51Val

Select item 13973363789.

rs1397336378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:57082198 (GRCh38)
Y:59228347 (GRCh37)
Canonical SPDI:: NC_000024.10:57082197:G:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_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_000024.10:g.57082198G>T, NC_000024.9:g.59228347G>T, NG_021435.2:g.19335G>T, NG_021435.1:g.19399G>T, NM_005638.6:c.202G>T, NM_005638.5:c.202G>T, NR_033715.2:n.250G>T, NR_033715.1:n.315G>T, NM_001185183.2:c.202G>T, NM_001185183.1:c.202G>T, NC_000023.11:g.155895678G>T, NC_000023.10:g.155125341G>T, XM_017029760.2:c.61G>T, XM_017029760.1:c.61G>T, XM_011531188.2:c.61G>T, XM_011531188.1:c.61G>T, XM_017030063.2:c.61G>T, XM_017030063.1:c.61G>T, XM_011545653.2:c.61G>T, XM_011545653.1:c.61G>T, NP_005629.1:p.Asp68Tyr, NP_001172112.1:p.Asp68Tyr, XP_016885552.1:p.Asp21Tyr, XP_011543955.1:p.Asp21Tyr

Select item 139419345410.

rs1394193454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:57087027 (GRCh38)
Y:59233177 (GRCh37)
Canonical SPDI:: NC_000024.10:57087026:C:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000024.10:g.57087027C>T, NC_000024.9:g.59233177C>T, NG_021435.2:g.24164C>T, NG_021435.1:g.24229C>T, NM_005638.6:c.353C>T, NM_005638.5:c.353C>T, NM_001145149.3:c.230C>T, NM_001145149.2:c.230C>T, NR_033714.2:n.408C>T, NR_033714.1:n.473C>T, NR_033715.2:n.401C>T, NR_033715.1:n.466C>T, NM_001185183.2:c.353C>T, NM_001185183.1:c.353C>T, NC_000023.11:g.155900507C>T, NC_000023.10:g.155130171C>T, XM_017029760.2:c.212C>T, XM_017029760.1:c.212C>T, XM_011531188.2:c.212C>T, XM_011531188.1:c.212C>T, XM_017030063.2:c.212C>T, XM_017030063.1:c.212C>T, XM_011545653.2:c.212C>T, XM_011545653.1:c.212C>T, NP_005629.1:p.Ser118Phe, NP_001138621.1:p.Ser77Phe, NP_001172112.1:p.Ser118Phe, XP_016885552.1:p.Ser71Phe, XP_011543955.1:p.Ser71Phe

Select item 138346500011.

rs1383465000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:57084635 (GRCh38)
Y:59230785 (GRCh37)
Canonical SPDI:: NC_000024.10:57084634:T:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.57084635T>A, NC_000024.9:g.59230785T>A, NG_021435.2:g.21772T>A, NG_021435.1:g.21837T>A, NM_005638.6:c.208T>A, NM_005638.5:c.208T>A, NM_001145149.3:c.85T>A, NM_001145149.2:c.85T>A, NR_033714.2:n.263T>A, NR_033714.1:n.328T>A, NR_033715.2:n.256T>A, NR_033715.1:n.321T>A, NM_001185183.2:c.208T>A, NM_001185183.1:c.208T>A, NC_000023.11:g.155898115T>A, NC_000023.10:g.155127779T>A, XM_017029760.2:c.67T>A, XM_017029760.1:c.67T>A, XM_011531188.2:c.67T>A, XM_011531188.1:c.67T>A, XM_017030063.2:c.67T>A, XM_017030063.1:c.67T>A, XM_011545653.2:c.67T>A, XM_011545653.1:c.67T>A, NP_005629.1:p.Phe70Ile, NP_001138621.1:p.Phe29Ile, NP_001172112.1:p.Phe70Ile, XP_016885552.1:p.Phe23Ile, XP_011543955.1:p.Phe23Ile

Select item 136987853012.

rs1369878530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:57076153 (GRCh38)
Y:59222302 (GRCh37)
Canonical SPDI:: NC_000024.10:57076152:G:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.57076153G>A, NC_000024.9:g.59222302G>A, NG_021435.2:g.13290G>A, NG_021435.1:g.13354G>A, NC_000023.11:g.155889633G>A, NC_000023.10:g.155119296G>A, XM_017029760.2:c.5G>A, XM_017029760.1:c.5G>A, XM_011531188.2:c.5G>A, XM_011531188.1:c.5G>A, XM_017030063.2:c.5G>A, XM_017030063.1:c.5G>A, XM_011545653.2:c.5G>A, XM_011545653.1:c.5G>A, XP_016885552.1:p.Cys2Tyr, XP_011543955.1:p.Cys2Tyr

Select item 136145259613.

rs1361452596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: Y:57087090 (GRCh38)
Y:59233240 (GRCh37)
Canonical SPDI:: NC_000024.10:57087089:T:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57087090T>G, NC_000024.9:g.59233240T>G, NG_021435.2:g.24227T>G, NG_021435.1:g.24292T>G, NM_005638.6:c.416T>G, NM_005638.5:c.416T>G, NM_001145149.3:c.293T>G, NM_001145149.2:c.293T>G, NR_033714.2:n.471T>G, NR_033714.1:n.536T>G, NR_033715.2:n.464T>G, NR_033715.1:n.529T>G, NM_001185183.2:c.416T>G, NM_001185183.1:c.416T>G, NC_000023.11:g.155900570T>G, NC_000023.10:g.155130234T>G, XM_017029760.2:c.275T>G, XM_017029760.1:c.275T>G, XM_011531188.2:c.275T>G, XM_011531188.1:c.275T>G, XM_017030063.2:c.275T>G, XM_017030063.1:c.275T>G, XM_011545653.2:c.275T>G, XM_011545653.1:c.275T>G, NP_005629.1:p.Ile139Ser, NP_001138621.1:p.Ile98Ser, NP_001172112.1:p.Ile139Ser, XP_016885552.1:p.Ile92Ser, XP_011543955.1:p.Ile92Ser

Select item 135801718214.

rs1358017182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:57128425 (GRCh38)
Y:59274575 (GRCh37)
Canonical SPDI:: NC_000024.10:57128424:C:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000024.10:g.57128425C>T, NC_000024.9:g.59274575C>T, NG_021435.2:g.65562C>T, NG_021435.1:g.65627C>T, NM_005638.6:c.617C>T, NM_005638.5:c.617C>T, NM_001145149.3:c.494C>T, NM_001145149.2:c.494C>T, NR_033714.2:n.672C>T, NR_033714.1:n.737C>T, NR_033715.2:n.665C>T, NR_033715.1:n.730C>T, NM_001185183.2:c.549C>T, NM_001185183.1:c.549C>T, NC_000023.11:g.155941905C>T, NC_000023.10:g.155171569C>T, XM_017029760.2:c.476C>T, XM_017029760.1:c.476C>T, XM_011531188.2:c.408C>T, XM_011531188.1:c.408C>T, XM_017030063.2:c.476C>T, XM_017030063.1:c.476C>T, XM_011545653.2:c.408C>T, XM_011545653.1:c.408C>T, NP_005629.1:p.Ser206Leu, NP_001138621.1:p.Ser165Leu, XP_016885552.1:p.Ser159Leu

Select item 134794499515.

rs1347944995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:57128460 (GRCh38)
Y:59274610 (GRCh37)
Canonical SPDI:: NC_000024.10:57128459:G:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.57128460G>A, NC_000024.9:g.59274610G>A, NG_021435.2:g.65597G>A, NG_021435.1:g.65662G>A, NM_005638.6:c.652G>A, NM_005638.5:c.652G>A, NM_001145149.3:c.529G>A, NM_001145149.2:c.529G>A, NR_033714.2:n.707G>A, NR_033714.1:n.772G>A, NR_033715.2:n.700G>A, NR_033715.1:n.765G>A, NM_001185183.2:c.584G>A, NM_001185183.1:c.584G>A, NC_000023.11:g.155941940G>A, NC_000023.10:g.155171604G>A, XM_017029760.2:c.511G>A, XM_017029760.1:c.511G>A, XM_011531188.2:c.443G>A, XM_011531188.1:c.443G>A, XM_017030063.2:c.511G>A, XM_017030063.1:c.511G>A, XM_011545653.2:c.443G>A, XM_011545653.1:c.443G>A, NP_005629.1:p.Val218Met, NP_001138621.1:p.Val177Met, NP_001172112.1:p.Cys195Tyr, XP_016885552.1:p.Val171Met, XP_011543955.1:p.Cys148Tyr

Select item 134398373116.

rs1343983731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:57082195 (GRCh38)
Y:59228344 (GRCh37)
Canonical SPDI:: NC_000024.10:57082194:G:A
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000024.10:g.57082195G>A, NC_000024.9:g.59228344G>A, NG_021435.2:g.19332G>A, NG_021435.1:g.19396G>A, NM_005638.6:c.199G>A, NM_005638.5:c.199G>A, NR_033715.2:n.247G>A, NR_033715.1:n.312G>A, NM_001185183.2:c.199G>A, NM_001185183.1:c.199G>A, NC_000023.11:g.155895675G>A, NC_000023.10:g.155125338G>A, XM_017029760.2:c.58G>A, XM_017029760.1:c.58G>A, XM_011531188.2:c.58G>A, XM_011531188.1:c.58G>A, XM_017030063.2:c.58G>A, XM_017030063.1:c.58G>A, XM_011545653.2:c.58G>A, XM_011545653.1:c.58G>A, NP_005629.1:p.Asp67Asn, NP_001172112.1:p.Asp67Asn, XP_016885552.1:p.Asp20Asn, XP_011543955.1:p.Asp20Asn

Select item 134109321117.

rs1341093211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:57082146 (GRCh38)
Y:59228295 (GRCh37)
Canonical SPDI:: NC_000024.10:57082145:T:C
Gene:: VAMP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.57082146T>C, NC_000024.9:g.59228295T>C, NG_021435.2:g.19283T>C, NG_021435.1:g.19347T>C, NM_005638.6:c.150T>C, NM_005638.5:c.150T>C, NR_033715.2:n.198T>C, NR_033715.1:n.263T>C, NM_001185183.2:c.150T>C, NM_001185183.1:c.150T>C, NC_000023.11:g.155895626T>C, NC_000023.10:g.155125289T>C, XM_017029760.2:c.9T>C, XM_017029760.1:c.9T>C, XM_011531188.2:c.9T>C, XM_011531188.1:c.9T>C, XM_017030063.2:c.9T>C, XM_017030063.1:c.9T>C, XM_011545653.2:c.9T>C, XM_011545653.1:c.9T>C

Select item 133830095018.

rs1338300950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:57082175 (GRCh38)
Y:59228324 (GRCh37)
Canonical SPDI:: NC_000024.10:57082174:T:C
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000024.10:g.57082175T>C, NC_000024.9:g.59228324T>C, NG_021435.2:g.19312T>C, NG_021435.1:g.19376T>C, NM_005638.6:c.179T>C, NM_005638.5:c.179T>C, NR_033715.2:n.227T>C, NR_033715.1:n.292T>C, NM_001185183.2:c.179T>C, NM_001185183.1:c.179T>C, NC_000023.11:g.155895655T>C, NC_000023.10:g.155125318T>C, XM_017029760.2:c.38T>C, XM_017029760.1:c.38T>C, XM_011531188.2:c.38T>C, XM_011531188.1:c.38T>C, XM_017030063.2:c.38T>C, XM_017030063.1:c.38T>C, XM_011545653.2:c.38T>C, XM_011545653.1:c.38T>C, NP_005629.1:p.Ile60Thr, NP_001172112.1:p.Ile60Thr, XP_016885552.1:p.Ile13Thr, XP_011543955.1:p.Ile13Thr

Select item 133620622119.

rs1336206221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: Y:57106397 (GRCh38)
Y:59252547 (GRCh37)
Canonical SPDI:: NC_000024.10:57106396:T:G
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.57106397T>G, NC_000024.9:g.59252547T>G, NG_021435.2:g.43534T>G, NG_021435.1:g.43599T>G, NM_005638.6:c.498T>G, NM_005638.5:c.498T>G, NM_001145149.3:c.375T>G, NM_001145149.2:c.375T>G, NR_033714.2:n.553T>G, NR_033714.1:n.618T>G, NR_033715.2:n.546T>G, NR_033715.1:n.611T>G, NC_000023.11:g.155919877T>G, NC_000023.10:g.155149541T>G, XM_017029760.2:c.357T>G, XM_017029760.1:c.357T>G, XM_017030063.2:c.357T>G, XM_017030063.1:c.357T>G, NP_005629.1:p.Asp166Glu, NP_001138621.1:p.Asp125Glu, XP_016885552.1:p.Asp119Glu

Select item 133618686120.

rs1336186861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: Y:57128411 (GRCh38)
Y:59274561 (GRCh37)
Canonical SPDI:: NC_000024.10:57128410:C:G,NC_000024.10:57128410:C:T
Gene:: VAMP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000024.10:g.57128411C>G, NC_000024.10:g.57128411C>T, NC_000024.9:g.59274561C>G, NC_000024.9:g.59274561C>T, NG_021435.2:g.65548C>G, NG_021435.2:g.65548C>T, NG_021435.1:g.65613C>G, NG_021435.1:g.65613C>T, NM_005638.6:c.603C>G, NM_005638.6:c.603C>T, NM_005638.5:c.603C>G, NM_005638.5:c.603C>T, NM_001145149.3:c.480C>G, NM_001145149.3:c.480C>T, NM_001145149.2:c.480C>G, NM_001145149.2:c.480C>T, NR_033714.2:n.658C>G, NR_033714.2:n.658C>T, NR_033714.1:n.723C>G, NR_033714.1:n.723C>T, NR_033715.2:n.651C>G, NR_033715.2:n.651C>T, NR_033715.1:n.716C>G, NR_033715.1:n.716C>T, NM_001185183.2:c.535C>G, NM_001185183.2:c.535C>T, NM_001185183.1:c.535C>G, NM_001185183.1:c.535C>T, NC_000023.11:g.155941891C>G, NC_000023.11:g.155941891C>T, NC_000023.10:g.155171555C>G, NC_000023.10:g.155171555C>T, XM_017029760.2:c.462C>G, XM_017029760.2:c.462C>T, XM_017029760.1:c.462C>G, XM_017029760.1:c.462C>T, XM_011531188.2:c.394C>G, XM_011531188.2:c.394C>T, XM_011531188.1:c.394C>G, XM_011531188.1:c.394C>T, XM_017030063.2:c.462C>G, XM_017030063.2:c.462C>T, XM_017030063.1:c.462C>G, XM_017030063.1:c.462C>T, XM_011545653.2:c.394C>G, XM_011545653.2:c.394C>T, XM_011545653.1:c.394C>G, XM_011545653.1:c.394C>T, NP_005629.1:p.Ile201Met, NP_001138621.1:p.Ile160Met, NP_001172112.1:p.Leu179Val, XP_016885552.1:p.Ile154Met, XP_011543955.1:p.Leu132Val

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Items: 1 to 20 of 136

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