SNP Links for Protein (Select 264681563) - SNP

Links from Protein

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Select item 14890014181.

rs1489001418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:109875554 (GRCh38)
10:111635312 (GRCh37)
Canonical SPDI:: NC_000010.11:109875553:G:A
Gene:: XPNPEP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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.109875554G>A, NC_000010.10:g.111635312G>A, NM_020383.4:c.1365C>T, NM_020383.3:c.1365C>T, XM_017016613.3:c.1221C>T, XM_017016613.2:c.1221C>T, XM_017016613.1:c.1221C>T, XM_011540134.3:c.1365C>T, XM_011540134.2:c.1365C>T, XM_011540134.1:c.1365C>T, NM_001324133.2:c.1365C>T, NM_001324133.1:c.1365C>T, NM_001324131.2:c.972C>T, NM_001324131.1:c.972C>T, NM_001324135.2:c.1314C>T, NM_001324135.1:c.1314C>T, NM_001324132.2:c.1236C>T, NM_001324132.1:c.1236C>T, NM_001324128.2:c.1023C>T, NM_001324128.1:c.1023C>T, NM_001324134.2:c.843C>T, NM_001324134.1:c.843C>T, NM_001324136.1:c.1350C>T, NR_030724.1:n.1332C>T, XM_047425714.1:c.1023C>T, NM_006523.1:c.1236C>T

Select item 14869892522.

rs1486989252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:109878042 (GRCh38)
10:111637800 (GRCh37)
Canonical SPDI:: NC_000010.11:109878041:A:T
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.109878042A>T, NC_000010.10:g.111637800A>T, NM_020383.4:c.1199T>A, NM_020383.3:c.1199T>A, XM_017016613.3:c.1055T>A, XM_017016613.2:c.1055T>A, XM_017016613.1:c.1055T>A, XM_011540134.3:c.1199T>A, XM_011540134.2:c.1199T>A, XM_011540134.1:c.1199T>A, NM_001324133.2:c.1199T>A, NM_001324133.1:c.1199T>A, NM_001324131.2:c.806T>A, NM_001324131.1:c.806T>A, NM_001324135.2:c.1148T>A, NM_001324135.1:c.1148T>A, NM_001167604.2:c.1199T>A, NM_001167604.1:c.1199T>A, NM_001324132.2:c.1070T>A, NM_001324132.1:c.1070T>A, NM_001324128.2:c.857T>A, NM_001324128.1:c.857T>A, NM_001324134.2:c.677T>A, NM_001324134.1:c.677T>A, NM_001324136.1:c.1184T>A, NR_030724.1:n.1166T>A, XM_047425714.1:c.857T>A, XM_047425713.1:c.1199T>A, NM_006523.1:c.1070T>A, NP_065116.3:p.Val400Glu, XP_016872102.1:p.Val352Glu, XP_011538436.1:p.Val400Glu, NP_001311062.1:p.Val400Glu, NP_001311060.1:p.Val269Glu, NP_001311064.1:p.Val383Glu, NP_001161076.1:p.Val400Glu, NP_001311061.1:p.Val357Glu, NP_001311057.1:p.Val286Glu, NP_001311063.1:p.Val226Glu, NP_001311065.1:p.Val395Glu, XP_047281670.1:p.Val286Glu, XP_047281669.1:p.Val400Glu

Select item 14847078263.

rs1484707826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:109886248 (GRCh38)
10:111646006 (GRCh37)
Canonical SPDI:: NC_000010.11:109886247:G:A
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.109886248G>A, NC_000010.10:g.111646006G>A, NM_020383.4:c.746C>T, NM_020383.3:c.746C>T, XM_017016613.3:c.602C>T, XM_017016613.2:c.602C>T, XM_017016613.1:c.602C>T, XM_011540134.3:c.746C>T, XM_011540134.2:c.746C>T, XM_011540134.1:c.746C>T, NM_001324133.2:c.746C>T, NM_001324133.1:c.746C>T, NM_001324131.2:c.404C>T, NM_001324131.1:c.404C>T, NM_001324135.2:c.746C>T, NM_001324135.1:c.746C>T, NM_001167604.2:c.746C>T, NM_001167604.1:c.746C>T, NM_001324132.2:c.617C>T, NM_001324132.1:c.617C>T, NM_001324128.2:c.404C>T, NM_001324128.1:c.404C>T, NM_001324134.2:c.224C>T, NM_001324134.1:c.224C>T, NM_001324136.1:c.731C>T, NR_030724.1:n.713C>T, XM_047425714.1:c.404C>T, XM_047425713.1:c.746C>T, NM_006523.1:c.617C>T, NP_065116.3:p.Ala249Val, XP_016872102.1:p.Ala201Val, XP_011538436.1:p.Ala249Val, NP_001311062.1:p.Ala249Val, NP_001311060.1:p.Ala135Val, NP_001311064.1:p.Ala249Val, NP_001161076.1:p.Ala249Val, NP_001311061.1:p.Ala206Val, NP_001311057.1:p.Ala135Val, NP_001311063.1:p.Ala75Val, NP_001311065.1:p.Ala244Val, XP_047281670.1:p.Ala135Val, XP_047281669.1:p.Ala249Val

Select item 14843035184.

rs1484303518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:109888160 (GRCh38)
10:111647918 (GRCh37)
Canonical SPDI:: NC_000010.11:109888159:T:C,NC_000010.11:109888159:T:G
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.109888160T>C, NC_000010.11:g.109888160T>G, NC_000010.10:g.111647918T>C, NC_000010.10:g.111647918T>G, NM_020383.4:c.541A>G, NM_020383.4:c.541A>C, NM_020383.3:c.541A>G, NM_020383.3:c.541A>C, XM_011540134.3:c.541A>G, XM_011540134.3:c.541A>C, XM_011540134.2:c.541A>G, XM_011540134.2:c.541A>C, XM_011540134.1:c.541A>G, XM_011540134.1:c.541A>C, NM_001324133.2:c.541A>G, NM_001324133.2:c.541A>C, NM_001324133.1:c.541A>G, NM_001324133.1:c.541A>C, NM_001324131.2:c.199A>G, NM_001324131.2:c.199A>C, NM_001324131.1:c.199A>G, NM_001324131.1:c.199A>C, NM_001324135.2:c.541A>G, NM_001324135.2:c.541A>C, NM_001324135.1:c.541A>G, NM_001324135.1:c.541A>C, NM_001167604.2:c.541A>G, NM_001167604.2:c.541A>C, NM_001167604.1:c.541A>G, NM_001167604.1:c.541A>C, NM_001324132.2:c.412A>G, NM_001324132.2:c.412A>C, NM_001324132.1:c.412A>G, NM_001324132.1:c.412A>C, NM_001324128.2:c.199A>G, NM_001324128.2:c.199A>C, NM_001324128.1:c.199A>G, NM_001324128.1:c.199A>C, NM_001324134.2:c.19A>G, NM_001324134.2:c.19A>C, NM_001324134.1:c.19A>G, NM_001324134.1:c.19A>C, NM_001324136.1:c.526A>G, NM_001324136.1:c.526A>C, NR_030724.1:n.508A>G, NR_030724.1:n.508A>C, XM_047425714.1:c.199A>G, XM_047425714.1:c.199A>C, XM_047425713.1:c.541A>G, XM_047425713.1:c.541A>C, NM_006523.1:c.412A>G, NM_006523.1:c.412A>C, NP_065116.3:p.Ser181Gly, NP_065116.3:p.Ser181Arg, XP_011538436.1:p.Ser181Gly, XP_011538436.1:p.Ser181Arg, NP_001311062.1:p.Ser181Gly, NP_001311062.1:p.Ser181Arg, NP_001311060.1:p.Ser67Gly, NP_001311060.1:p.Ser67Arg, NP_001311064.1:p.Ser181Gly, NP_001311064.1:p.Ser181Arg, NP_001161076.1:p.Ser181Gly, NP_001161076.1:p.Ser181Arg, NP_001311061.1:p.Ser138Gly, NP_001311061.1:p.Ser138Arg, NP_001311057.1:p.Ser67Gly, NP_001311057.1:p.Ser67Arg, NP_001311063.1:p.Ser7Gly, NP_001311063.1:p.Ser7Arg, NP_001311065.1:p.Ser176Gly, NP_001311065.1:p.Ser176Arg, XP_047281670.1:p.Ser67Gly, XP_047281670.1:p.Ser67Arg, XP_047281669.1:p.Ser181Gly, XP_047281669.1:p.Ser181Arg

Select item 14838682255.

rs1483868225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:109882454 (GRCh38)
10:111642212 (GRCh37)
Canonical SPDI:: NC_000010.11:109882453:G:T
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.109882454G>T, NC_000010.10:g.111642212G>T, NM_020383.4:c.1019C>A, NM_020383.3:c.1019C>A, XM_017016613.3:c.875C>A, XM_017016613.2:c.875C>A, XM_017016613.1:c.875C>A, XM_011540134.3:c.1019C>A, XM_011540134.2:c.1019C>A, XM_011540134.1:c.1019C>A, NM_001324133.2:c.1019C>A, NM_001324133.1:c.1019C>A, NM_001324131.2:c.677C>A, NM_001324131.1:c.677C>A, NM_001324135.2:c.1019C>A, NM_001324135.1:c.1019C>A, NM_001167604.2:c.1019C>A, NM_001167604.1:c.1019C>A, NM_001324132.2:c.890C>A, NM_001324132.1:c.890C>A, NM_001324128.2:c.677C>A, NM_001324128.1:c.677C>A, NM_001324134.2:c.497C>A, NM_001324134.1:c.497C>A, NM_001324136.1:c.1004C>A, NR_030724.1:n.986C>A, XM_047425714.1:c.677C>A, XM_047425713.1:c.1019C>A, NM_006523.1:c.890C>A, NP_065116.3:p.Ala340Asp, XP_016872102.1:p.Ala292Asp, XP_011538436.1:p.Ala340Asp, NP_001311062.1:p.Ala340Asp, NP_001311060.1:p.Ala226Asp, NP_001311064.1:p.Ala340Asp, NP_001161076.1:p.Ala340Asp, NP_001311061.1:p.Ala297Asp, NP_001311057.1:p.Ala226Asp, NP_001311063.1:p.Ala166Asp, NP_001311065.1:p.Ala335Asp, XP_047281670.1:p.Ala226Asp, XP_047281669.1:p.Ala340Asp

Select item 14821630916.

rs1482163091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:109878043 (GRCh38)
10:111637801 (GRCh37)
Canonical SPDI:: NC_000010.11:109878042:C:T
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.109878043C>T, NC_000010.10:g.111637801C>T, NM_020383.4:c.1198G>A, NM_020383.3:c.1198G>A, XM_017016613.3:c.1054G>A, XM_017016613.2:c.1054G>A, XM_017016613.1:c.1054G>A, XM_011540134.3:c.1198G>A, XM_011540134.2:c.1198G>A, XM_011540134.1:c.1198G>A, NM_001324133.2:c.1198G>A, NM_001324133.1:c.1198G>A, NM_001324131.2:c.805G>A, NM_001324131.1:c.805G>A, NM_001324135.2:c.1147G>A, NM_001324135.1:c.1147G>A, NM_001167604.2:c.1198G>A, NM_001167604.1:c.1198G>A, NM_001324132.2:c.1069G>A, NM_001324132.1:c.1069G>A, NM_001324128.2:c.856G>A, NM_001324128.1:c.856G>A, NM_001324134.2:c.676G>A, NM_001324134.1:c.676G>A, NM_001324136.1:c.1183G>A, NR_030724.1:n.1165G>A, XM_047425714.1:c.856G>A, XM_047425713.1:c.1198G>A, NM_006523.1:c.1069G>A, NP_065116.3:p.Val400Met, XP_016872102.1:p.Val352Met, XP_011538436.1:p.Val400Met, NP_001311062.1:p.Val400Met, NP_001311060.1:p.Val269Met, NP_001311064.1:p.Val383Met, NP_001161076.1:p.Val400Met, NP_001311061.1:p.Val357Met, NP_001311057.1:p.Val286Met, NP_001311063.1:p.Val226Met, NP_001311065.1:p.Val395Met, XP_047281670.1:p.Val286Met, XP_047281669.1:p.Val400Met

Select item 14816125087.

rs1481612508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:109907710 (GRCh38)
10:111667468 (GRCh37)
Canonical SPDI:: NC_000010.11:109907709:G:A
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.109907710G>A, NC_000010.10:g.111667468G>A, NM_020383.4:c.227C>T, NM_020383.3:c.227C>T, XM_017016613.3:c.227C>T, XM_017016613.2:c.227C>T, XM_017016613.1:c.227C>T, XM_011540134.3:c.227C>T, XM_011540134.2:c.227C>T, XM_011540134.1:c.227C>T, NM_001324133.2:c.227C>T, NM_001324133.1:c.227C>T, NM_001324131.2:c.-211C>T, NM_001324131.1:c.-211C>T, NM_001324135.2:c.227C>T, NM_001324135.1:c.227C>T, NM_001167604.2:c.227C>T, NM_001167604.1:c.227C>T, NM_001324132.2:c.98C>T, NM_001324132.1:c.98C>T, NM_001324128.2:c.-52C>T, NM_001324128.1:c.-52C>T, NM_001324134.2:c.-127C>T, NM_001324134.1:c.-127C>T, NM_001324136.1:c.212C>T, NR_030724.1:n.258C>T, XM_047425714.1:c.-211C>T, XM_047425713.1:c.227C>T, NM_006523.1:c.98C>T, NP_065116.3:p.Pro76Leu, XP_016872102.1:p.Pro76Leu, XP_011538436.1:p.Pro76Leu, NP_001311062.1:p.Pro76Leu, NP_001311064.1:p.Pro76Leu, NP_001161076.1:p.Pro76Leu, NP_001311061.1:p.Pro33Leu, NP_001311065.1:p.Pro71Leu, XP_047281669.1:p.Pro76Leu

Select item 14807557648.

rs1480755764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:109893055 (GRCh38)
10:111652813 (GRCh37)
Canonical SPDI:: NC_000010.11:109893054:A:C
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.109893055A>C, NC_000010.10:g.111652813A>C, NM_020383.4:c.267T>G, NM_020383.3:c.267T>G, XM_017016613.3:c.267T>G, XM_017016613.2:c.267T>G, XM_017016613.1:c.267T>G, XM_011540134.3:c.267T>G, XM_011540134.2:c.267T>G, XM_011540134.1:c.267T>G, NM_001324133.2:c.267T>G, NM_001324133.1:c.267T>G, NM_001324131.2:c.-76T>G, NM_001324131.1:c.-76T>G, NM_001324135.2:c.267T>G, NM_001324135.1:c.267T>G, NM_001167604.2:c.267T>G, NM_001167604.1:c.267T>G, NM_001324132.2:c.138T>G, NM_001324132.1:c.138T>G, NM_001324136.1:c.252T>G, XM_047425714.1:c.-76T>G, XM_047425713.1:c.267T>G, NM_006523.1:c.138T>G, NP_065116.3:p.Cys89Trp, XP_016872102.1:p.Cys89Trp, XP_011538436.1:p.Cys89Trp, NP_001311062.1:p.Cys89Trp, NP_001311064.1:p.Cys89Trp, NP_001161076.1:p.Cys89Trp, NP_001311061.1:p.Cys46Trp, NP_001311065.1:p.Cys84Trp, XP_047281669.1:p.Cys89Trp

Select item 14797922889.

rs1479792288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:109893031 (GRCh38)
10:111652789 (GRCh37)
Canonical SPDI:: NC_000010.11:109893030:A:G
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
HGVS:: NC_000010.11:g.109893031A>G, NC_000010.10:g.111652789A>G, NM_020383.4:c.291T>C, NM_020383.3:c.291T>C, XM_017016613.3:c.291T>C, XM_017016613.2:c.291T>C, XM_017016613.1:c.291T>C, XM_011540134.3:c.291T>C, XM_011540134.2:c.291T>C, XM_011540134.1:c.291T>C, NM_001324133.2:c.291T>C, NM_001324133.1:c.291T>C, NM_001324131.2:c.-52T>C, NM_001324131.1:c.-52T>C, NM_001324135.2:c.291T>C, NM_001324135.1:c.291T>C, NM_001167604.2:c.291T>C, NM_001167604.1:c.291T>C, NM_001324132.2:c.162T>C, NM_001324132.1:c.162T>C, NM_001324136.1:c.276T>C, XM_047425714.1:c.-52T>C, XM_047425713.1:c.291T>C, NM_006523.1:c.162T>C

Select item 147910000210.

rs1479100002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:109877811 (GRCh38)
10:111637569 (GRCh37)
Canonical SPDI:: NC_000010.11:109877810:T:C
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.109877811T>C, NC_000010.10:g.111637569T>C, NM_020383.4:c.1298A>G, NM_020383.3:c.1298A>G, XM_017016613.3:c.1154A>G, XM_017016613.2:c.1154A>G, XM_017016613.1:c.1154A>G, XM_011540134.3:c.1298A>G, XM_011540134.2:c.1298A>G, XM_011540134.1:c.1298A>G, NM_001324133.2:c.1298A>G, NM_001324133.1:c.1298A>G, NM_001324131.2:c.905A>G, NM_001324131.1:c.905A>G, NM_001324135.2:c.1247A>G, NM_001324135.1:c.1247A>G, NM_001167604.2:c.1298A>G, NM_001167604.1:c.1298A>G, NM_001324132.2:c.1169A>G, NM_001324132.1:c.1169A>G, NM_001324128.2:c.956A>G, NM_001324128.1:c.956A>G, NM_001324134.2:c.776A>G, NM_001324134.1:c.776A>G, NM_001324136.1:c.1283A>G, NR_030724.1:n.1265A>G, XM_047425714.1:c.956A>G, XM_047425713.1:c.1298A>G, NM_006523.1:c.1169A>G, NP_065116.3:p.Asn433Ser, XP_016872102.1:p.Asn385Ser, XP_011538436.1:p.Asn433Ser, NP_001311062.1:p.Asn433Ser, NP_001311060.1:p.Asn302Ser, NP_001311064.1:p.Asn416Ser, NP_001161076.1:p.Asn433Ser, NP_001311061.1:p.Asn390Ser, NP_001311057.1:p.Asn319Ser, NP_001311063.1:p.Asn259Ser, NP_001311065.1:p.Asn428Ser, XP_047281670.1:p.Asn319Ser, XP_047281669.1:p.Asn433Ser

Select item 147788551511.

rs1477885515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:109870901 (GRCh38)
10:111630659 (GRCh37)
Canonical SPDI:: NC_000010.11:109870900:T:A
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.109870901T>A, NC_000010.10:g.111630659T>A, NM_020383.4:c.1526A>T, NM_020383.3:c.1526A>T, XM_017016613.3:c.1382A>T, XM_017016613.2:c.1382A>T, XM_017016613.1:c.1382A>T, NM_001324133.2:c.1526A>T, NM_001324133.1:c.1526A>T, NM_001324131.2:c.1133A>T, NM_001324131.1:c.1133A>T, NM_001324135.2:c.1475A>T, NM_001324135.1:c.1475A>T, NM_001167604.2:c.1454A>T, NM_001167604.1:c.1454A>T, NM_001324132.2:c.1397A>T, NM_001324132.1:c.1397A>T, NM_001324128.2:c.1184A>T, NM_001324128.1:c.1184A>T, NM_001324134.2:c.1004A>T, NM_001324134.1:c.1004A>T, NM_001324136.1:c.1511A>T, NR_030724.1:n.1493A>T, XM_047425714.1:c.1184A>T, NM_006523.1:c.1397A>T, NP_065116.3:p.His509Leu, XP_016872102.1:p.His461Leu, NP_001311062.1:p.His509Leu, NP_001311060.1:p.His378Leu, NP_001311064.1:p.His492Leu, NP_001161076.1:p.His485Leu, NP_001311061.1:p.His466Leu, NP_001311057.1:p.His395Leu, NP_001311063.1:p.His335Leu, NP_001311065.1:p.His504Leu, XP_047281670.1:p.His395Leu

Select item 147755789912.

rs1477557899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:109882545 (GRCh38)
10:111642303 (GRCh37)
Canonical SPDI:: NC_000010.11:109882544:G:A,NC_000010.11:109882544:G:C
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.109882545G>A, NC_000010.11:g.109882545G>C, NC_000010.10:g.111642303G>A, NC_000010.10:g.111642303G>C, NM_020383.4:c.928C>T, NM_020383.4:c.928C>G, NM_020383.3:c.928C>T, NM_020383.3:c.928C>G, XM_017016613.3:c.784C>T, XM_017016613.3:c.784C>G, XM_017016613.2:c.784C>T, XM_017016613.2:c.784C>G, XM_017016613.1:c.784C>T, XM_017016613.1:c.784C>G, XM_011540134.3:c.928C>T, XM_011540134.3:c.928C>G, XM_011540134.2:c.928C>T, XM_011540134.2:c.928C>G, XM_011540134.1:c.928C>T, XM_011540134.1:c.928C>G, NM_001324133.2:c.928C>T, NM_001324133.2:c.928C>G, NM_001324133.1:c.928C>T, NM_001324133.1:c.928C>G, NM_001324131.2:c.586C>T, NM_001324131.2:c.586C>G, NM_001324131.1:c.586C>T, NM_001324131.1:c.586C>G, NM_001324135.2:c.928C>T, NM_001324135.2:c.928C>G, NM_001324135.1:c.928C>T, NM_001324135.1:c.928C>G, NM_001167604.2:c.928C>T, NM_001167604.2:c.928C>G, NM_001167604.1:c.928C>T, NM_001167604.1:c.928C>G, NM_001324132.2:c.799C>T, NM_001324132.2:c.799C>G, NM_001324132.1:c.799C>T, NM_001324132.1:c.799C>G, NM_001324128.2:c.586C>T, NM_001324128.2:c.586C>G, NM_001324128.1:c.586C>T, NM_001324128.1:c.586C>G, NM_001324134.2:c.406C>T, NM_001324134.2:c.406C>G, NM_001324134.1:c.406C>T, NM_001324134.1:c.406C>G, NM_001324136.1:c.913C>T, NM_001324136.1:c.913C>G, NR_030724.1:n.895C>T, NR_030724.1:n.895C>G, XM_047425714.1:c.586C>T, XM_047425714.1:c.586C>G, XM_047425713.1:c.928C>T, XM_047425713.1:c.928C>G, NM_006523.1:c.799C>T, NM_006523.1:c.799C>G, NP_065116.3:p.Pro310Ser, NP_065116.3:p.Pro310Ala, XP_016872102.1:p.Pro262Ser, XP_016872102.1:p.Pro262Ala, XP_011538436.1:p.Pro310Ser, XP_011538436.1:p.Pro310Ala, NP_001311062.1:p.Pro310Ser, NP_001311062.1:p.Pro310Ala, NP_001311060.1:p.Pro196Ser, NP_001311060.1:p.Pro196Ala, NP_001311064.1:p.Pro310Ser, NP_001311064.1:p.Pro310Ala, NP_001161076.1:p.Pro310Ser, NP_001161076.1:p.Pro310Ala, NP_001311061.1:p.Pro267Ser, NP_001311061.1:p.Pro267Ala, NP_001311057.1:p.Pro196Ser, NP_001311057.1:p.Pro196Ala, NP_001311063.1:p.Pro136Ser, NP_001311063.1:p.Pro136Ala, NP_001311065.1:p.Pro305Ser, NP_001311065.1:p.Pro305Ala, XP_047281670.1:p.Pro196Ser, XP_047281670.1:p.Pro196Ala, XP_047281669.1:p.Pro310Ser, XP_047281669.1:p.Pro310Ala

Select item 147561981813.

rs1475619818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:109865244 (GRCh38)
10:111625002 (GRCh37)
Canonical SPDI:: NC_000010.11:109865243:G:A
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.109865244G>A, NC_000010.10:g.111625002G>A, NM_020383.4:c.1941C>T, NM_020383.3:c.1941C>T, XM_017016613.3:c.1797C>T, XM_017016613.2:c.1797C>T, XM_017016613.1:c.1797C>T, XM_011540134.3:c.1767C>T, XM_011540134.2:c.1767C>T, XM_011540134.1:c.1767C>T, NM_001324133.2:c.1999C>T, NM_001324133.1:c.1999C>T, NM_001324131.2:c.1548C>T, NM_001324131.1:c.1548C>T, NM_001324135.2:c.1890C>T, NM_001324135.1:c.1890C>T, NM_001167604.2:c.1869C>T, NM_001167604.1:c.1869C>T, NM_001324132.2:c.1812C>T, NM_001324132.1:c.1812C>T, NM_001324128.2:c.1599C>T, NM_001324128.1:c.1599C>T, NM_001324134.2:c.1419C>T, NM_001324134.1:c.1419C>T, NM_001324136.1:c.1926C>T, NR_030724.1:n.1908C>T, XM_047425714.1:c.1599C>T, XM_047425713.1:c.1695C>T, NM_006523.1:c.1812C>T, NP_001311062.1:p.Pro667Ser

Select item 147545077614.

rs1475450776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:109915024 (GRCh38)
10:111674782 (GRCh37)
Canonical SPDI:: NC_000010.11:109915023:T:A
Gene:: XPNPEP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.109915024T>A, NC_000010.10:g.111674782T>A, NM_020383.4:c.108A>T, NM_020383.3:c.108A>T, XM_017016613.3:c.108A>T, XM_017016613.2:c.108A>T, XM_017016613.1:c.108A>T, XM_011540134.3:c.108A>T, XM_011540134.2:c.108A>T, XM_011540134.1:c.108A>T, NM_001324133.2:c.108A>T, NM_001324133.1:c.108A>T, NM_001324131.2:c.-330A>T, NM_001324131.1:c.-330A>T, NM_001324135.2:c.108A>T, NM_001324135.1:c.108A>T, NM_001167604.2:c.108A>T, NM_001167604.1:c.108A>T, NM_001324134.2:c.-246A>T, NM_001324134.1:c.-246A>T, NM_001324136.1:c.93A>T, XM_047425713.1:c.108A>T

Select item 147523725215.

rs1475237252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:109870877 (GRCh38)
10:111630635 (GRCh37)
Canonical SPDI:: NC_000010.11:109870876:G:T
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.109870877G>T, NC_000010.10:g.111630635G>T, NM_020383.4:c.1550C>A, NM_020383.3:c.1550C>A, XM_017016613.3:c.1406C>A, XM_017016613.2:c.1406C>A, XM_017016613.1:c.1406C>A, NM_001324133.2:c.1550C>A, NM_001324133.1:c.1550C>A, NM_001324131.2:c.1157C>A, NM_001324131.1:c.1157C>A, NM_001324135.2:c.1499C>A, NM_001324135.1:c.1499C>A, NM_001167604.2:c.1478C>A, NM_001167604.1:c.1478C>A, NM_001324132.2:c.1421C>A, NM_001324132.1:c.1421C>A, NM_001324128.2:c.1208C>A, NM_001324128.1:c.1208C>A, NM_001324134.2:c.1028C>A, NM_001324134.1:c.1028C>A, NM_001324136.1:c.1535C>A, NR_030724.1:n.1517C>A, XM_047425714.1:c.1208C>A, NM_006523.1:c.1421C>A, NP_065116.3:p.Ser517Ter, XP_016872102.1:p.Ser469Ter, NP_001311062.1:p.Ser517Ter, NP_001311060.1:p.Ser386Ter, NP_001311064.1:p.Ser500Ter, NP_001161076.1:p.Ser493Ter, NP_001311061.1:p.Ser474Ter, NP_001311057.1:p.Ser403Ter, NP_001311063.1:p.Ser343Ter, NP_001311065.1:p.Ser512Ter, XP_047281670.1:p.Ser403Ter

Select item 147238926416.

rs1472389264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:109873388 (GRCh38)
10:111633146 (GRCh37)
Canonical SPDI:: NC_000010.11:109873387:C:G,NC_000010.11:109873387:C:T
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.109873388C>G, NC_000010.11:g.109873388C>T, NC_000010.10:g.111633146C>G, NC_000010.10:g.111633146C>T, NM_020383.4:c.1431G>C, NM_020383.4:c.1431G>A, NM_020383.3:c.1431G>C, NM_020383.3:c.1431G>A, XM_017016613.3:c.1287G>C, XM_017016613.3:c.1287G>A, XM_017016613.2:c.1287G>C, XM_017016613.2:c.1287G>A, XM_017016613.1:c.1287G>C, XM_017016613.1:c.1287G>A, XM_011540134.3:c.1431G>C, XM_011540134.3:c.1431G>A, XM_011540134.2:c.1431G>C, XM_011540134.2:c.1431G>A, XM_011540134.1:c.1431G>C, XM_011540134.1:c.1431G>A, NM_001324133.2:c.1431G>C, NM_001324133.2:c.1431G>A, NM_001324133.1:c.1431G>C, NM_001324133.1:c.1431G>A, NM_001324131.2:c.1038G>C, NM_001324131.2:c.1038G>A, NM_001324131.1:c.1038G>C, NM_001324131.1:c.1038G>A, NM_001324135.2:c.1380G>C, NM_001324135.2:c.1380G>A, NM_001324135.1:c.1380G>C, NM_001324135.1:c.1380G>A, NM_001167604.2:c.1359G>C, NM_001167604.2:c.1359G>A, NM_001167604.1:c.1359G>C, NM_001167604.1:c.1359G>A, NM_001324132.2:c.1302G>C, NM_001324132.2:c.1302G>A, NM_001324132.1:c.1302G>C, NM_001324132.1:c.1302G>A, NM_001324128.2:c.1089G>C, NM_001324128.2:c.1089G>A, NM_001324128.1:c.1089G>C, NM_001324128.1:c.1089G>A, NM_001324134.2:c.909G>C, NM_001324134.2:c.909G>A, NM_001324134.1:c.909G>C, NM_001324134.1:c.909G>A, NM_001324136.1:c.1416G>C, NM_001324136.1:c.1416G>A, NR_030724.1:n.1398G>C, NR_030724.1:n.1398G>A, XM_047425714.1:c.1089G>C, XM_047425714.1:c.1089G>A, XM_047425713.1:c.1359G>C, XM_047425713.1:c.1359G>A, NM_006523.1:c.1302G>C, NM_006523.1:c.1302G>A

Select item 147109484917.

rs1471094849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:109888061 (GRCh38)
10:111647819 (GRCh37)
Canonical SPDI:: NC_000010.11:109888060:G:A
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.109888061G>A, NC_000010.10:g.111647819G>A, NM_020383.4:c.640C>T, NM_020383.3:c.640C>T, XM_011540134.3:c.640C>T, XM_011540134.2:c.640C>T, XM_011540134.1:c.640C>T, NM_001324133.2:c.640C>T, NM_001324133.1:c.640C>T, NM_001324131.2:c.298C>T, NM_001324131.1:c.298C>T, NM_001324135.2:c.640C>T, NM_001324135.1:c.640C>T, NM_001167604.2:c.640C>T, NM_001167604.1:c.640C>T, NM_001324132.2:c.511C>T, NM_001324132.1:c.511C>T, NM_001324128.2:c.298C>T, NM_001324128.1:c.298C>T, NM_001324134.2:c.118C>T, NM_001324134.1:c.118C>T, NM_001324136.1:c.625C>T, NR_030724.1:n.607C>T, XM_047425714.1:c.298C>T, XM_047425713.1:c.640C>T, NM_006523.1:c.511C>T

Select item 147066170318.

rs1470661703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:109891794 (GRCh38)
10:111651552 (GRCh37)
Canonical SPDI:: NC_000010.11:109891793:T:C
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,initiator_codon_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.109891794T>C, NC_000010.10:g.111651552T>C, NM_020383.4:c.343A>G, NM_020383.3:c.343A>G, XM_017016613.3:c.343A>G, XM_017016613.2:c.343A>G, XM_017016613.1:c.343A>G, XM_011540134.3:c.343A>G, XM_011540134.2:c.343A>G, XM_011540134.1:c.343A>G, NM_001324133.2:c.343A>G, NM_001324133.1:c.343A>G, NM_001324131.2:c.1A>G, NM_001324131.1:c.1A>G, NM_001324135.2:c.343A>G, NM_001324135.1:c.343A>G, NM_001167604.2:c.343A>G, NM_001167604.1:c.343A>G, NM_001324132.2:c.214A>G, NM_001324132.1:c.214A>G, NM_001324128.2:c.1A>G, NM_001324128.1:c.1A>G, NM_001324136.1:c.328A>G, NR_030724.1:n.310A>G, XM_047425714.1:c.1A>G, XM_047425713.1:c.343A>G, NM_006523.1:c.214A>G, NP_065116.3:p.Met115Val, XP_016872102.1:p.Met115Val, XP_011538436.1:p.Met115Val, NP_001311062.1:p.Met115Val, NP_001311060.1:p.Met1Val, NP_001311064.1:p.Met115Val, NP_001161076.1:p.Met115Val, NP_001311061.1:p.Met72Val, NP_001311057.1:p.Met1Val, NP_001311065.1:p.Met110Val, XP_047281670.1:p.Met1Val, XP_047281669.1:p.Met115Val

Select item 147021959819.

rs1470219598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:109886328 (GRCh38)
10:111646086 (GRCh37)
Canonical SPDI:: NC_000010.11:109886327:C:T
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.109886328C>T, NC_000010.10:g.111646086C>T, NM_020383.4:c.666G>A, NM_020383.3:c.666G>A, XM_017016613.3:c.522G>A, XM_017016613.2:c.522G>A, XM_017016613.1:c.522G>A, XM_011540134.3:c.666G>A, XM_011540134.2:c.666G>A, XM_011540134.1:c.666G>A, NM_001324133.2:c.666G>A, NM_001324133.1:c.666G>A, NM_001324131.2:c.324G>A, NM_001324131.1:c.324G>A, NM_001324135.2:c.666G>A, NM_001324135.1:c.666G>A, NM_001167604.2:c.666G>A, NM_001167604.1:c.666G>A, NM_001324132.2:c.537G>A, NM_001324132.1:c.537G>A, NM_001324128.2:c.324G>A, NM_001324128.1:c.324G>A, NM_001324134.2:c.144G>A, NM_001324134.1:c.144G>A, NM_001324136.1:c.651G>A, NR_030724.1:n.633G>A, XM_047425714.1:c.324G>A, XM_047425713.1:c.666G>A, NM_006523.1:c.537G>A

Select item 146997519120.

rs1469975191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:109873426 (GRCh38)
10:111633184 (GRCh37)
Canonical SPDI:: NC_000010.11:109873425:C:T
Gene:: XPNPEP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.109873426C>T, NC_000010.10:g.111633184C>T, NM_020383.4:c.1393G>A, NM_020383.3:c.1393G>A, XM_017016613.3:c.1249G>A, XM_017016613.2:c.1249G>A, XM_017016613.1:c.1249G>A, XM_011540134.3:c.1393G>A, XM_011540134.2:c.1393G>A, XM_011540134.1:c.1393G>A, NM_001324133.2:c.1393G>A, NM_001324133.1:c.1393G>A, NM_001324131.2:c.1000G>A, NM_001324131.1:c.1000G>A, NM_001324135.2:c.1342G>A, NM_001324135.1:c.1342G>A, NM_001167604.2:c.1321G>A, NM_001167604.1:c.1321G>A, NM_001324132.2:c.1264G>A, NM_001324132.1:c.1264G>A, NM_001324128.2:c.1051G>A, NM_001324128.1:c.1051G>A, NM_001324134.2:c.871G>A, NM_001324134.1:c.871G>A, NM_001324136.1:c.1378G>A, NR_030724.1:n.1360G>A, XM_047425714.1:c.1051G>A, XM_047425713.1:c.1321G>A, NM_006523.1:c.1264G>A, NP_065116.3:p.Asp465Asn, XP_016872102.1:p.Asp417Asn, XP_011538436.1:p.Asp465Asn, NP_001311062.1:p.Asp465Asn, NP_001311060.1:p.Asp334Asn, NP_001311064.1:p.Asp448Asn, NP_001161076.1:p.Asp441Asn, NP_001311061.1:p.Asp422Asn, NP_001311057.1:p.Asp351Asn, NP_001311063.1:p.Asp291Asn, NP_001311065.1:p.Asp460Asn, XP_047281670.1:p.Asp351Asn, XP_047281669.1:p.Asp441Asn

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