Canonical Allele Identifier: CA5039344
Gene: VCP HGNC NCBI

Linked Data

ClinVar Variation Id: 287400
dbSNP Id: rs377316335
gnomAD v2: 9-35062127-G-A
gnomAD v3: 9-35062130-G-A
gnomAD v4: 9-35062130-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35062130G>A , CM000671.2:g.35062130G>A GRCh38
NC_000009.11:g.35062127G>A , CM000671.1:g.35062127G>A GRCh37
NC_000009.10:g.35052127G>A NCBI36
NG_007887.1:g.15613C>T , LRG_657:g.15613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358901.11:c.954C>T MANE Select ENSP00000351777.6:p.Gly318=
ENST00000417448.2:c.819C>T ENSP00000399456.2:p.Gly273=
ENST00000448530.6:c.819C>T ENSP00000392088.2:p.Gly273=
ENST00000480327.2:n.1092C>T
ENST00000676836.2:n.1300C>T
ENST00000677257.1:c.948C>T ENSP00000504354.1:p.Gly316=
ENST00000678018.1:c.*925C>T ENSP00000503811.1:n.*925C>T
ENST00000678465.1:c.971C>T ENSP00000504259.1:p.Ala324Val
ENST00000678650.1:c.819C>T ENSP00000503426.1:p.Gly273=
ENST00000679204.2:c.954C>T ENSP00000503131.2:p.Gly318=
ENST00000679599.1:n.1224C>T
ENST00000679647.1:c.954C>T ENSP00000506216.1:p.Gly318=
ENST00000679800.1:n.1353C>T
ENST00000679862.1:c.819C>T ENSP00000504990.1:p.Gly273=
ENST00000679902.1:c.954C>T ENSP00000506338.1:p.Gly318=
ENST00000680834.1:c.304C>T
ENST00000680916.1:c.954C>T ENSP00000505769.1:p.Gly318=
ENST00000681125.1:c.36C>T
ENST00000681335.1:c.954C>T ENSP00000505230.1:p.Gly318=
ENST00000681690.1:n.1226C>T
ENST00000358901.10:c.954C>T ENSP00000351777.6:p.Gly318=
ENST00000493886.5:n.1228C>T
NM_007126.3:c.954C>T , LRG_657t1:c.954C>T NP_009057.1:p.Gly318=
NM_001354927.1:c.819C>T NP_001341856.1:p.Gly273=
NM_001354928.1:c.819C>T NP_001341857.1:p.Gly273=
NM_007126.4:c.954C>T NP_009057.1:p.Gly318=
NM_007126.5:c.954C>T MANE Select NP_009057.1:p.Gly318=
NM_001354927.2:c.819C>T NP_001341856.1:p.Gly273=
NM_001354928.2:c.819C>T NP_001341857.1:p.Gly273=