SNP Links for Protein (Select 1042998932) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 125

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Select item 14815553271.

rs1481555327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59839801 (GRCh38)
17:57917162 (GRCh37)
Canonical SPDI:: NC_000017.11:59839800:T:C
Gene:: VMP1 (Varview), MIR21 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59839801T>C, NC_000017.10:g.57917162T>C, NG_051107.1:g.137337T>C, NM_030938.5:c.1111T>C, NM_030938.4:c.1111T>C, NM_030938.3:c.1111T>C, NM_001329394.2:c.1111T>C, NM_001329394.1:c.1111T>C, NM_001329395.2:c.1150T>C, NM_001329395.1:c.1150T>C, NM_001329398.2:c.859T>C, NM_001329398.1:c.859T>C, NM_001329399.2:c.820T>C, NM_001329399.1:c.820T>C, NM_001329396.2:c.1000T>C, NM_001329396.1:c.1000T>C, NM_001329402.2:c.535T>C, NM_001329402.1:c.535T>C, NM_001329397.2:c.943T>C, NM_001329397.1:c.943T>C, NM_001329400.2:c.709T>C, NM_001329400.1:c.709T>C, NM_001329401.2:c.652T>C, NM_001329401.1:c.652T>C

Select item 14772073112.

rs1477207311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:59817754 (GRCh38)
17:57895115 (GRCh37)
Canonical SPDI:: NC_000017.11:59817753:C:G
Gene:: VMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59817754C>G, NC_000017.10:g.57895115C>G, NG_051107.1:g.115290C>G, NM_030938.5:c.955C>G, NM_030938.4:c.955C>G, NM_030938.3:c.955C>G, NM_001329394.2:c.955C>G, NM_001329394.1:c.955C>G, NM_001329395.2:c.955C>G, NM_001329395.1:c.955C>G, NM_001329398.2:c.664C>G, NM_001329398.1:c.664C>G, NM_001329399.2:c.664C>G, NM_001329399.1:c.664C>G, NM_001329396.2:c.844C>G, NM_001329396.1:c.844C>G, NM_001329402.2:c.379C>G, NM_001329402.1:c.379C>G, NM_001329397.2:c.787C>G, NM_001329397.1:c.787C>G, NM_001329400.2:c.553C>G, NM_001329400.1:c.553C>G, NM_001329401.2:c.496C>G, NM_001329401.1:c.496C>G, NP_112200.2:p.Gln319Glu, NP_001316323.1:p.Gln319Glu, NP_001316324.1:p.Gln319Glu, NP_001316327.1:p.Gln222Glu, NP_001316328.1:p.Gln222Glu, NP_001316325.1:p.Gln282Glu, NP_001316331.1:p.Gln127Glu, NP_001316326.1:p.Gln263Glu, NP_001316329.1:p.Gln185Glu, NP_001316330.1:p.Gln166Glu

Select item 14692216293.

rs1469221629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59839865 (GRCh38)
17:57917226 (GRCh37)
Canonical SPDI:: NC_000017.11:59839864:C:T
Gene:: VMP1 (Varview), MIR21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_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_000017.11:g.59839865C>T, NC_000017.10:g.57917226C>T, NG_051107.1:g.137401C>T, NM_030938.5:c.1175C>T, NM_030938.4:c.1175C>T, NM_030938.3:c.1175C>T, NM_001329394.2:c.1175C>T, NM_001329394.1:c.1175C>T, NM_001329395.2:c.1214C>T, NM_001329395.1:c.1214C>T, NM_001329398.2:c.923C>T, NM_001329398.1:c.923C>T, NM_001329399.2:c.884C>T, NM_001329399.1:c.884C>T, NM_001329396.2:c.1064C>T, NM_001329396.1:c.1064C>T, NM_001329402.2:c.599C>T, NM_001329402.1:c.599C>T, NM_001329397.2:c.1007C>T, NM_001329397.1:c.1007C>T, NM_001329400.2:c.773C>T, NM_001329400.1:c.773C>T, NM_001329401.2:c.716C>T, NM_001329401.1:c.716C>T, NP_112200.2:p.Ala392Val, NP_001316323.1:p.Ala392Val, NP_001316324.1:p.Ala405Val, NP_001316327.1:p.Ala308Val, NP_001316328.1:p.Ala295Val, NP_001316325.1:p.Ala355Val, NP_001316331.1:p.Ala200Val, NP_001316326.1:p.Ala336Val, NP_001316329.1:p.Ala258Val, NP_001316330.1:p.Ala239Val

Select item 14611570694.

rs1461157069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:59839784 (GRCh38)
17:57917145 (GRCh37)
Canonical SPDI:: NC_000017.11:59839783:C:G
Gene:: VMP1 (Varview), MIR21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59839784C>G, NC_000017.10:g.57917145C>G, NG_051107.1:g.137320C>G, NM_030938.5:c.1094C>G, NM_030938.4:c.1094C>G, NM_030938.3:c.1094C>G, NM_001329394.2:c.1094C>G, NM_001329394.1:c.1094C>G, NM_001329395.2:c.1133C>G, NM_001329395.1:c.1133C>G, NM_001329398.2:c.842C>G, NM_001329398.1:c.842C>G, NM_001329399.2:c.803C>G, NM_001329399.1:c.803C>G, NM_001329396.2:c.983C>G, NM_001329396.1:c.983C>G, NM_001329402.2:c.518C>G, NM_001329402.1:c.518C>G, NM_001329397.2:c.926C>G, NM_001329397.1:c.926C>G, NM_001329400.2:c.692C>G, NM_001329400.1:c.692C>G, NM_001329401.2:c.635C>G, NM_001329401.1:c.635C>G, NP_112200.2:p.Ser365Cys, NP_001316323.1:p.Ser365Cys, NP_001316324.1:p.Ser378Cys, NP_001316327.1:p.Ser281Cys, NP_001316328.1:p.Ser268Cys, NP_001316325.1:p.Ser328Cys, NP_001316331.1:p.Ser173Cys, NP_001316326.1:p.Ser309Cys, NP_001316329.1:p.Ser231Cys, NP_001316330.1:p.Ser212Cys

Select item 14402857985.

rs1440285798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59838385 (GRCh38)
17:57915746 (GRCh37)
Canonical SPDI:: NC_000017.11:59838384:G:A
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59838385G>A, NC_000017.10:g.57915746G>A, NG_051107.1:g.135921G>A, NM_030938.5:c.1065G>A, NM_030938.4:c.1065G>A, NM_030938.3:c.1065G>A, NM_001329394.2:c.1065G>A, NM_001329394.1:c.1065G>A, NM_001329395.2:c.1104G>A, NM_001329395.1:c.1104G>A, NM_001329398.2:c.813G>A, NM_001329398.1:c.813G>A, NM_001329399.2:c.774G>A, NM_001329399.1:c.774G>A, NM_001329396.2:c.954G>A, NM_001329396.1:c.954G>A, NM_001329402.2:c.489G>A, NM_001329402.1:c.489G>A, NM_001329397.2:c.897G>A, NM_001329397.1:c.897G>A, NM_001329400.2:c.663G>A, NM_001329400.1:c.663G>A, NM_001329401.2:c.606G>A, NM_001329401.1:c.606G>A, NG_065204.1:g.1235G>A, NP_112200.2:p.Met355Ile, NP_001316323.1:p.Met355Ile, NP_001316324.1:p.Met368Ile, NP_001316327.1:p.Met271Ile, NP_001316328.1:p.Met258Ile, NP_001316325.1:p.Met318Ile, NP_001316331.1:p.Met163Ile, NP_001316326.1:p.Met299Ile, NP_001316329.1:p.Met221Ile, NP_001316330.1:p.Met202Ile

Select item 14375031136.

rs1437503113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:59817734 (GRCh38)
17:57895095 (GRCh37)
Canonical SPDI:: NC_000017.11:59817733:T:A
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59817734T>A, NC_000017.10:g.57895095T>A, NG_051107.1:g.115270T>A, NM_030938.5:c.935T>A, NM_030938.4:c.935T>A, NM_030938.3:c.935T>A, NM_001329394.2:c.935T>A, NM_001329394.1:c.935T>A, NM_001329395.2:c.935T>A, NM_001329395.1:c.935T>A, NM_001329398.2:c.644T>A, NM_001329398.1:c.644T>A, NM_001329399.2:c.644T>A, NM_001329399.1:c.644T>A, NM_001329396.2:c.824T>A, NM_001329396.1:c.824T>A, NM_001329402.2:c.359T>A, NM_001329402.1:c.359T>A, NM_001329397.2:c.767T>A, NM_001329397.1:c.767T>A, NM_001329400.2:c.533T>A, NM_001329400.1:c.533T>A, NM_001329401.2:c.476T>A, NM_001329401.1:c.476T>A, NP_112200.2:p.Phe312Tyr, NP_001316323.1:p.Phe312Tyr, NP_001316324.1:p.Phe312Tyr, NP_001316327.1:p.Phe215Tyr, NP_001316328.1:p.Phe215Tyr, NP_001316325.1:p.Phe275Tyr, NP_001316331.1:p.Phe120Tyr, NP_001316326.1:p.Phe256Tyr, NP_001316329.1:p.Phe178Tyr, NP_001316330.1:p.Phe159Tyr

Select item 14132731457.

rs1413273145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:59817715 (GRCh38)
17:57895076 (GRCh37)
Canonical SPDI:: NC_000017.11:59817714:A:T
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59817715A>T, NC_000017.10:g.57895076A>T, NG_051107.1:g.115251A>T, NM_030938.5:c.916A>T, NM_030938.4:c.916A>T, NM_030938.3:c.916A>T, NM_001329394.2:c.916A>T, NM_001329394.1:c.916A>T, NM_001329395.2:c.916A>T, NM_001329395.1:c.916A>T, NM_001329398.2:c.625A>T, NM_001329398.1:c.625A>T, NM_001329399.2:c.625A>T, NM_001329399.1:c.625A>T, NM_001329396.2:c.805A>T, NM_001329396.1:c.805A>T, NM_001329402.2:c.340A>T, NM_001329402.1:c.340A>T, NM_001329397.2:c.748A>T, NM_001329397.1:c.748A>T, NM_001329400.2:c.514A>T, NM_001329400.1:c.514A>T, NM_001329401.2:c.457A>T, NM_001329401.1:c.457A>T, NP_112200.2:p.Ile306Phe, NP_001316323.1:p.Ile306Phe, NP_001316324.1:p.Ile306Phe, NP_001316327.1:p.Ile209Phe, NP_001316328.1:p.Ile209Phe, NP_001316325.1:p.Ile269Phe, NP_001316331.1:p.Ile114Phe, NP_001316326.1:p.Ile250Phe, NP_001316329.1:p.Ile172Phe, NP_001316330.1:p.Ile153Phe

Select item 14120587308.

rs1412058730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59838351 (GRCh38)
17:57915712 (GRCh37)
Canonical SPDI:: NC_000017.11:59838350:C:T
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59838351C>T, NC_000017.10:g.57915712C>T, NG_051107.1:g.135887C>T, NM_030938.5:c.1031C>T, NM_030938.4:c.1031C>T, NM_030938.3:c.1031C>T, NM_001329394.2:c.1031C>T, NM_001329394.1:c.1031C>T, NM_001329395.2:c.1070C>T, NM_001329395.1:c.1070C>T, NM_001329398.2:c.779C>T, NM_001329398.1:c.779C>T, NM_001329399.2:c.740C>T, NM_001329399.1:c.740C>T, NM_001329396.2:c.920C>T, NM_001329396.1:c.920C>T, NM_001329402.2:c.455C>T, NM_001329402.1:c.455C>T, NM_001329397.2:c.863C>T, NM_001329397.1:c.863C>T, NM_001329400.2:c.629C>T, NM_001329400.1:c.629C>T, NM_001329401.2:c.572C>T, NM_001329401.1:c.572C>T, NG_065204.1:g.1201C>T, NP_112200.2:p.Ala344Val, NP_001316323.1:p.Ala344Val, NP_001316324.1:p.Ala357Val, NP_001316327.1:p.Ala260Val, NP_001316328.1:p.Ala247Val, NP_001316325.1:p.Ala307Val, NP_001316331.1:p.Ala152Val, NP_001316326.1:p.Ala288Val, NP_001316329.1:p.Ala210Val, NP_001316330.1:p.Ala191Val

Select item 14100487089.

rs1410048708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:59808818 (GRCh38)
17:57886179 (GRCh37)
Canonical SPDI:: NC_000017.11:59808817:T:G
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59808818T>G, NC_000017.10:g.57886179T>G, NG_051107.1:g.106354T>G, NM_030938.5:c.737T>G, NM_030938.4:c.737T>G, NM_030938.3:c.737T>G, NM_001329394.2:c.737T>G, NM_001329394.1:c.737T>G, NM_001329395.2:c.737T>G, NM_001329395.1:c.737T>G, NM_001329398.2:c.446T>G, NM_001329398.1:c.446T>G, NM_001329399.2:c.446T>G, NM_001329399.1:c.446T>G, NM_001329396.2:c.626T>G, NM_001329396.1:c.626T>G, NM_001329402.2:c.161T>G, NM_001329402.1:c.161T>G, NM_001329397.2:c.569T>G, NM_001329397.1:c.569T>G, NM_001329400.2:c.335T>G, NM_001329400.1:c.335T>G, NM_001329401.2:c.278T>G, NM_001329401.1:c.278T>G, NP_112200.2:p.Leu246Arg, NP_001316323.1:p.Leu246Arg, NP_001316324.1:p.Leu246Arg, NP_001316327.1:p.Leu149Arg, NP_001316328.1:p.Leu149Arg, NP_001316325.1:p.Leu209Arg, NP_001316331.1:p.Leu54Arg, NP_001316326.1:p.Leu190Arg, NP_001316329.1:p.Leu112Arg, NP_001316330.1:p.Leu93Arg

Select item 140156706810.

rs1401567068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:59773762 (GRCh38)
17:57851123 (GRCh37)
Canonical SPDI:: NC_000017.11:59773761:T:C,NC_000017.11:59773761:T:G
Gene:: VMP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59773762T>C, NC_000017.11:g.59773762T>G, NC_000017.10:g.57851123T>C, NC_000017.10:g.57851123T>G, NG_051107.1:g.71298T>C, NG_051107.1:g.71298T>G, NM_030938.5:c.591T>C, NM_030938.5:c.591T>G, NM_030938.4:c.591T>C, NM_030938.4:c.591T>G, NM_030938.3:c.591T>C, NM_030938.3:c.591T>G, NM_001329394.2:c.591T>C, NM_001329394.2:c.591T>G, NM_001329394.1:c.591T>C, NM_001329394.1:c.591T>G, NM_001329395.2:c.591T>C, NM_001329395.2:c.591T>G, NM_001329395.1:c.591T>C, NM_001329395.1:c.591T>G, NM_001329398.2:c.300T>C, NM_001329398.2:c.300T>G, NM_001329398.1:c.300T>C, NM_001329398.1:c.300T>G, NM_001329399.2:c.300T>C, NM_001329399.2:c.300T>G, NM_001329399.1:c.300T>C, NM_001329399.1:c.300T>G, NM_001329396.2:c.480T>C, NM_001329396.2:c.480T>G, NM_001329396.1:c.480T>C, NM_001329396.1:c.480T>G, NM_001329402.2:c.15T>C, NM_001329402.2:c.15T>G, NM_001329402.1:c.15T>C, NM_001329402.1:c.15T>G, NM_001329397.2:c.423T>C, NM_001329397.2:c.423T>G, NM_001329397.1:c.423T>C, NM_001329397.1:c.423T>G, NM_001329400.2:c.189T>C, NM_001329400.2:c.189T>G, NM_001329400.1:c.189T>C, NM_001329400.1:c.189T>G, NM_001329401.2:c.132T>C, NM_001329401.2:c.132T>G, NM_001329401.1:c.132T>C, NM_001329401.1:c.132T>G

Select item 139533981311.

rs1395339813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59838343 (GRCh38)
17:57915704 (GRCh37)
Canonical SPDI:: NC_000017.11:59838342:C:T
Gene:: VMP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.59838343C>T, NC_000017.10:g.57915704C>T, NG_051107.1:g.135879C>T, NM_030938.5:c.1023C>T, NM_030938.4:c.1023C>T, NM_030938.3:c.1023C>T, NM_001329394.2:c.1023C>T, NM_001329394.1:c.1023C>T, NM_001329395.2:c.1062C>T, NM_001329395.1:c.1062C>T, NM_001329398.2:c.771C>T, NM_001329398.1:c.771C>T, NM_001329399.2:c.732C>T, NM_001329399.1:c.732C>T, NM_001329396.2:c.912C>T, NM_001329396.1:c.912C>T, NM_001329402.2:c.447C>T, NM_001329402.1:c.447C>T, NM_001329397.2:c.855C>T, NM_001329397.1:c.855C>T, NM_001329400.2:c.621C>T, NM_001329400.1:c.621C>T, NM_001329401.2:c.564C>T, NM_001329401.1:c.564C>T, NG_065204.1:g.1193C>T

Select item 139053664912.

rs1390536649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:59839870 (GRCh38)
17:57917231 (GRCh37)
Canonical SPDI:: NC_000017.11:59839869:C:A,NC_000017.11:59839869:C:G,NC_000017.11:59839869:C:T
Gene:: VMP1 (Varview), MIR21 (Varview)
Functional Consequence:: stop_gained,missense_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59839870C>A, NC_000017.11:g.59839870C>G, NC_000017.11:g.59839870C>T, NC_000017.10:g.57917231C>A, NC_000017.10:g.57917231C>G, NC_000017.10:g.57917231C>T, NG_051107.1:g.137406C>A, NG_051107.1:g.137406C>G, NG_051107.1:g.137406C>T, NM_030938.5:c.1180C>A, NM_030938.5:c.1180C>G, NM_030938.5:c.1180C>T, NM_030938.4:c.1180C>A, NM_030938.4:c.1180C>G, NM_030938.4:c.1180C>T, NM_030938.3:c.1180C>A, NM_030938.3:c.1180C>G, NM_030938.3:c.1180C>T, NM_001329394.2:c.1180C>A, NM_001329394.2:c.1180C>G, NM_001329394.2:c.1180C>T, NM_001329394.1:c.1180C>A, NM_001329394.1:c.1180C>G, NM_001329394.1:c.1180C>T, NM_001329395.2:c.1219C>A, NM_001329395.2:c.1219C>G, NM_001329395.2:c.1219C>T, NM_001329395.1:c.1219C>A, NM_001329395.1:c.1219C>G, NM_001329395.1:c.1219C>T, NM_001329398.2:c.928C>A, NM_001329398.2:c.928C>G, NM_001329398.2:c.928C>T, NM_001329398.1:c.928C>A, NM_001329398.1:c.928C>G, NM_001329398.1:c.928C>T, NM_001329399.2:c.889C>A, NM_001329399.2:c.889C>G, NM_001329399.2:c.889C>T, NM_001329399.1:c.889C>A, NM_001329399.1:c.889C>G, NM_001329399.1:c.889C>T, NM_001329396.2:c.1069C>A, NM_001329396.2:c.1069C>G, NM_001329396.2:c.1069C>T, NM_001329396.1:c.1069C>A, NM_001329396.1:c.1069C>G, NM_001329396.1:c.1069C>T, NM_001329402.2:c.604C>A, NM_001329402.2:c.604C>G, NM_001329402.2:c.604C>T, NM_001329402.1:c.604C>A, NM_001329402.1:c.604C>G, NM_001329402.1:c.604C>T, NM_001329397.2:c.1012C>A, NM_001329397.2:c.1012C>G, NM_001329397.2:c.1012C>T, NM_001329397.1:c.1012C>A, NM_001329397.1:c.1012C>G, NM_001329397.1:c.1012C>T, NM_001329400.2:c.778C>A, NM_001329400.2:c.778C>G, NM_001329400.2:c.778C>T, NM_001329400.1:c.778C>A, NM_001329400.1:c.778C>G, NM_001329400.1:c.778C>T, NM_001329401.2:c.721C>A, NM_001329401.2:c.721C>G, NM_001329401.2:c.721C>T, NM_001329401.1:c.721C>A, NM_001329401.1:c.721C>G, NM_001329401.1:c.721C>T, NP_112200.2:p.Arg394Gly, NP_112200.2:p.Arg394Ter, NP_001316323.1:p.Arg394Gly, NP_001316323.1:p.Arg394Ter, NP_001316324.1:p.Arg407Gly, NP_001316324.1:p.Arg407Ter, NP_001316327.1:p.Arg310Gly, NP_001316327.1:p.Arg310Ter, NP_001316328.1:p.Arg297Gly, NP_001316328.1:p.Arg297Ter, NP_001316325.1:p.Arg357Gly, NP_001316325.1:p.Arg357Ter, NP_001316331.1:p.Arg202Gly, NP_001316331.1:p.Arg202Ter, NP_001316326.1:p.Arg338Gly, NP_001316326.1:p.Arg338Ter, NP_001316329.1:p.Arg260Gly, NP_001316329.1:p.Arg260Ter, NP_001316330.1:p.Arg241Gly, NP_001316330.1:p.Arg241Ter

Select item 138787453213.

rs1387874532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59811766 (GRCh38)
17:57889127 (GRCh37)
Canonical SPDI:: NC_000017.11:59811765:A:G
Gene:: VMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59811766A>G, NC_000017.10:g.57889127A>G, NG_051107.1:g.109302A>G, NM_030938.5:c.892A>G, NM_030938.4:c.892A>G, NM_030938.3:c.892A>G, NM_001329394.2:c.892A>G, NM_001329394.1:c.892A>G, NM_001329395.2:c.892A>G, NM_001329395.1:c.892A>G, NM_001329398.2:c.601A>G, NM_001329398.1:c.601A>G, NM_001329399.2:c.601A>G, NM_001329399.1:c.601A>G, NM_001329396.2:c.781A>G, NM_001329396.1:c.781A>G, NM_001329402.2:c.316A>G, NM_001329402.1:c.316A>G, NM_001329397.2:c.724A>G, NM_001329397.1:c.724A>G, NM_001329400.2:c.490A>G, NM_001329400.1:c.490A>G, NM_001329401.2:c.433A>G, NM_001329401.1:c.433A>G, NP_112200.2:p.Ile298Val, NP_001316323.1:p.Ile298Val, NP_001316324.1:p.Ile298Val, NP_001316327.1:p.Ile201Val, NP_001316328.1:p.Ile201Val, NP_001316325.1:p.Ile261Val, NP_001316331.1:p.Ile106Val, NP_001316326.1:p.Ile242Val, NP_001316329.1:p.Ile164Val, NP_001316330.1:p.Ile145Val

Select item 138601680914.

rs1386016809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:59808853 (GRCh38)
17:57886214 (GRCh37)
Canonical SPDI:: NC_000017.11:59808852:T:G
Gene:: VMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.59808853T>G, NC_000017.10:g.57886214T>G, NG_051107.1:g.106389T>G, NM_030938.5:c.772T>G, NM_030938.4:c.772T>G, NM_030938.3:c.772T>G, NM_001329394.2:c.772T>G, NM_001329394.1:c.772T>G, NM_001329395.2:c.772T>G, NM_001329395.1:c.772T>G, NM_001329398.2:c.481T>G, NM_001329398.1:c.481T>G, NM_001329399.2:c.481T>G, NM_001329399.1:c.481T>G, NM_001329396.2:c.661T>G, NM_001329396.1:c.661T>G, NM_001329402.2:c.196T>G, NM_001329402.1:c.196T>G, NM_001329397.2:c.604T>G, NM_001329397.1:c.604T>G, NM_001329400.2:c.370T>G, NM_001329400.1:c.370T>G, NM_001329401.2:c.313T>G, NM_001329401.1:c.313T>G, NP_112200.2:p.Phe258Val, NP_001316323.1:p.Phe258Val, NP_001316324.1:p.Phe258Val, NP_001316327.1:p.Phe161Val, NP_001316328.1:p.Phe161Val, NP_001316325.1:p.Phe221Val, NP_001316331.1:p.Phe66Val, NP_001316326.1:p.Phe202Val, NP_001316329.1:p.Phe124Val, NP_001316330.1:p.Phe105Val

Select item 137717633415.

rs1377176334 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAACAGT [Show Flanks]
Chromosome:: 17:59773884 (GRCh38)
17:57851246 (GRCh37)
Canonical SPDI:: NC_000017.11:59773884:AGTAAGAACAGT:AGTAAGAACAGTAAGAACAGT
Gene:: VMP1 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant,coding_sequence_variant
Validated:: by frequency
MAF:: AGTAAGAAC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59773888_59773896dup, NC_000017.10:g.57851249_57851257dup, NG_051107.1:g.71424_71432dup

Select item 135205778516.

rs1352057785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:59773871 (GRCh38)
17:57851232 (GRCh37)
Canonical SPDI:: NC_000017.11:59773870:G:A,NC_000017.11:59773870:G:T
Gene:: VMP1 (Varview)
Functional Consequence:: missense_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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.59773871G>A, NC_000017.11:g.59773871G>T, NC_000017.10:g.57851232G>A, NC_000017.10:g.57851232G>T, NG_051107.1:g.71407G>A, NG_051107.1:g.71407G>T, NM_030938.5:c.700G>A, NM_030938.5:c.700G>T, NM_030938.4:c.700G>A, NM_030938.4:c.700G>T, NM_030938.3:c.700G>A, NM_030938.3:c.700G>T, NM_001329394.2:c.700G>A, NM_001329394.2:c.700G>T, NM_001329394.1:c.700G>A, NM_001329394.1:c.700G>T, NM_001329395.2:c.700G>A, NM_001329395.2:c.700G>T, NM_001329395.1:c.700G>A, NM_001329395.1:c.700G>T, NM_001329398.2:c.409G>A, NM_001329398.2:c.409G>T, NM_001329398.1:c.409G>A, NM_001329398.1:c.409G>T, NM_001329399.2:c.409G>A, NM_001329399.2:c.409G>T, NM_001329399.1:c.409G>A, NM_001329399.1:c.409G>T, NM_001329396.2:c.589G>A, NM_001329396.2:c.589G>T, NM_001329396.1:c.589G>A, NM_001329396.1:c.589G>T, NM_001329402.2:c.124G>A, NM_001329402.2:c.124G>T, NM_001329402.1:c.124G>A, NM_001329402.1:c.124G>T, NM_001329397.2:c.532G>A, NM_001329397.2:c.532G>T, NM_001329397.1:c.532G>A, NM_001329397.1:c.532G>T, NM_001329400.2:c.298G>A, NM_001329400.2:c.298G>T, NM_001329400.1:c.298G>A, NM_001329400.1:c.298G>T, NM_001329401.2:c.241G>A, NM_001329401.2:c.241G>T, NM_001329401.1:c.241G>A, NM_001329401.1:c.241G>T, NP_112200.2:p.Ala234Thr, NP_112200.2:p.Ala234Ser, NP_001316323.1:p.Ala234Thr, NP_001316323.1:p.Ala234Ser, NP_001316324.1:p.Ala234Thr, NP_001316324.1:p.Ala234Ser, NP_001316327.1:p.Ala137Thr, NP_001316327.1:p.Ala137Ser, NP_001316328.1:p.Ala137Thr, NP_001316328.1:p.Ala137Ser, NP_001316325.1:p.Ala197Thr, NP_001316325.1:p.Ala197Ser, NP_001316331.1:p.Ala42Thr, NP_001316331.1:p.Ala42Ser, NP_001316326.1:p.Ala178Thr, NP_001316326.1:p.Ala178Ser, NP_001316329.1:p.Ala100Thr, NP_001316329.1:p.Ala100Ser, NP_001316330.1:p.Ala81Thr, NP_001316330.1:p.Ala81Ser

Select item 135114531817.

rs1351145318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59773809 (GRCh38)
17:57851170 (GRCh37)
Canonical SPDI:: NC_000017.11:59773808:G:A
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59773809G>A, NC_000017.10:g.57851170G>A, NG_051107.1:g.71345G>A, NM_030938.5:c.638G>A, NM_030938.4:c.638G>A, NM_030938.3:c.638G>A, NM_001329394.2:c.638G>A, NM_001329394.1:c.638G>A, NM_001329395.2:c.638G>A, NM_001329395.1:c.638G>A, NM_001329398.2:c.347G>A, NM_001329398.1:c.347G>A, NM_001329399.2:c.347G>A, NM_001329399.1:c.347G>A, NM_001329396.2:c.527G>A, NM_001329396.1:c.527G>A, NM_001329402.2:c.62G>A, NM_001329402.1:c.62G>A, NM_001329397.2:c.470G>A, NM_001329397.1:c.470G>A, NM_001329400.2:c.236G>A, NM_001329400.1:c.236G>A, NM_001329401.2:c.179G>A, NM_001329401.1:c.179G>A, NP_112200.2:p.Arg213His, NP_001316323.1:p.Arg213His, NP_001316324.1:p.Arg213His, NP_001316327.1:p.Arg116His, NP_001316328.1:p.Arg116His, NP_001316325.1:p.Arg176His, NP_001316331.1:p.Arg21His, NP_001316326.1:p.Arg157His, NP_001316329.1:p.Arg79His, NP_001316330.1:p.Arg60His

Select item 134847655618.

rs1348476556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59773870 (GRCh38)
17:57851231 (GRCh37)
Canonical SPDI:: NC_000017.11:59773869:T:C
Gene:: VMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59773870T>C, NC_000017.10:g.57851231T>C, NG_051107.1:g.71406T>C, NM_030938.5:c.699T>C, NM_030938.4:c.699T>C, NM_030938.3:c.699T>C, NM_001329394.2:c.699T>C, NM_001329394.1:c.699T>C, NM_001329395.2:c.699T>C, NM_001329395.1:c.699T>C, NM_001329398.2:c.408T>C, NM_001329398.1:c.408T>C, NM_001329399.2:c.408T>C, NM_001329399.1:c.408T>C, NM_001329396.2:c.588T>C, NM_001329396.1:c.588T>C, NM_001329402.2:c.123T>C, NM_001329402.1:c.123T>C, NM_001329397.2:c.531T>C, NM_001329397.1:c.531T>C, NM_001329400.2:c.297T>C, NM_001329400.1:c.297T>C, NM_001329401.2:c.240T>C, NM_001329401.1:c.240T>C

Select item 134369191019.

rs1343691910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:59838392 (GRCh38)
17:57915753 (GRCh37)
Canonical SPDI:: NC_000017.11:59838391:C:A,NC_000017.11:59838391:C:G
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.59838392C>A, NC_000017.11:g.59838392C>G, NC_000017.10:g.57915753C>A, NC_000017.10:g.57915753C>G, NG_051107.1:g.135928C>A, NG_051107.1:g.135928C>G, NM_030938.5:c.1072C>A, NM_030938.5:c.1072C>G, NM_030938.4:c.1072C>A, NM_030938.4:c.1072C>G, NM_030938.3:c.1072C>A, NM_030938.3:c.1072C>G, NM_001329394.2:c.1072C>A, NM_001329394.2:c.1072C>G, NM_001329394.1:c.1072C>A, NM_001329394.1:c.1072C>G, NM_001329395.2:c.1111C>A, NM_001329395.2:c.1111C>G, NM_001329395.1:c.1111C>A, NM_001329395.1:c.1111C>G, NM_001329398.2:c.820C>A, NM_001329398.2:c.820C>G, NM_001329398.1:c.820C>A, NM_001329398.1:c.820C>G, NM_001329399.2:c.781C>A, NM_001329399.2:c.781C>G, NM_001329399.1:c.781C>A, NM_001329399.1:c.781C>G, NM_001329396.2:c.961C>A, NM_001329396.2:c.961C>G, NM_001329396.1:c.961C>A, NM_001329396.1:c.961C>G, NM_001329402.2:c.496C>A, NM_001329402.2:c.496C>G, NM_001329402.1:c.496C>A, NM_001329402.1:c.496C>G, NM_001329397.2:c.904C>A, NM_001329397.2:c.904C>G, NM_001329397.1:c.904C>A, NM_001329397.1:c.904C>G, NM_001329400.2:c.670C>A, NM_001329400.2:c.670C>G, NM_001329400.1:c.670C>A, NM_001329400.1:c.670C>G, NM_001329401.2:c.613C>A, NM_001329401.2:c.613C>G, NM_001329401.1:c.613C>A, NM_001329401.1:c.613C>G, NG_065204.1:g.1242C>A, NG_065204.1:g.1242C>G, NP_112200.2:p.Pro358Thr, NP_112200.2:p.Pro358Ala, NP_001316323.1:p.Pro358Thr, NP_001316323.1:p.Pro358Ala, NP_001316324.1:p.Pro371Thr, NP_001316324.1:p.Pro371Ala, NP_001316327.1:p.Pro274Thr, NP_001316327.1:p.Pro274Ala, NP_001316328.1:p.Pro261Thr, NP_001316328.1:p.Pro261Ala, NP_001316325.1:p.Pro321Thr, NP_001316325.1:p.Pro321Ala, NP_001316331.1:p.Pro166Thr, NP_001316331.1:p.Pro166Ala, NP_001316326.1:p.Pro302Thr, NP_001316326.1:p.Pro302Ala, NP_001316329.1:p.Pro224Thr, NP_001316329.1:p.Pro224Ala, NP_001316330.1:p.Pro205Thr, NP_001316330.1:p.Pro205Ala

Select item 134157712520.

rs1341577125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59811694 (GRCh38)
17:57889055 (GRCh37)
Canonical SPDI:: NC_000017.11:59811693:G:A
Gene:: VMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59811694G>A, NC_000017.10:g.57889055G>A, NG_051107.1:g.109230G>A, NM_030938.5:c.820G>A, NM_030938.4:c.820G>A, NM_030938.3:c.820G>A, NM_001329394.2:c.820G>A, NM_001329394.1:c.820G>A, NM_001329395.2:c.820G>A, NM_001329395.1:c.820G>A, NM_001329398.2:c.529G>A, NM_001329398.1:c.529G>A, NM_001329399.2:c.529G>A, NM_001329399.1:c.529G>A, NM_001329396.2:c.709G>A, NM_001329396.1:c.709G>A, NM_001329402.2:c.244G>A, NM_001329402.1:c.244G>A, NM_001329397.2:c.652G>A, NM_001329397.1:c.652G>A, NM_001329400.2:c.418G>A, NM_001329400.1:c.418G>A, NM_001329401.2:c.361G>A, NM_001329401.1:c.361G>A, NP_112200.2:p.Ala274Thr, NP_001316323.1:p.Ala274Thr, NP_001316324.1:p.Ala274Thr, NP_001316327.1:p.Ala177Thr, NP_001316328.1:p.Ala177Thr, NP_001316325.1:p.Ala237Thr, NP_001316331.1:p.Ala82Thr, NP_001316326.1:p.Ala218Thr, NP_001316329.1:p.Ala140Thr, NP_001316330.1:p.Ala121Thr

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