Canonical Allele Identifier: CA201281

Gene: VCP

Linked Data

• ClinVar Variation Id: 194645
• ClinVar RCV Id: RCV000175065 ; RCV000346373 ; RCV000399763 ; RCV000526744 ; RCV001087937 ; RCV002426834
• dbSNP Id: rs374391034
• ExAC: 9:35057474 T / C
• gnomAD v2: 9-35057474-T-C
• gnomAD v3: 9-35057477-T-C
• gnomAD v4: 9-35057477-T-C
• COSMIC: COSM4588804
• MyVariant Identifiers: chr9:g.35057474T>C (hg19) ; chr9:g.35057477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35057477T>C , CM000671.2:g.35057477T>C	GRCh38
NC_000009.11:g.35057474T>C , CM000671.1:g.35057474T>C	GRCh37
NC_000009.10:g.35047474T>C	NCBI36
NG_007887.1:g.20266A>G , LRG_657:g.20266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358901.11:c.2214A>G MANE Select	ENSP00000351777.6:p.Glu738=
ENST00000417448.2:c.2079A>G	ENSP00000399456.2:p.Glu693=
ENST00000448530.6:c.2079A>G	ENSP00000392088.2:p.Glu693=
ENST00000479300.2:n.742A>G
ENST00000676836.2:n.2957A>G
ENST00000677257.1:c.2208A>G	ENSP00000504354.1:p.Glu736=
ENST00000678018.1:c.*2185A>G	ENSP00000503811.1:n.*2185A>G
ENST00000678465.1:c.*1226A>G	ENSP00000504259.1:n.*1226A>G
ENST00000678650.1:c.2079A>G	ENSP00000503426.1:p.Glu693=
ENST00000679204.2:c.*855A>G	ENSP00000503131.2:n.*855A>G
ENST00000679599.1:n.4803A>G
ENST00000679647.1:c.2084-382A>G	ENSP00000506216.1:n.2084-382A>G
ENST00000679800.1:n.2613A>G
ENST00000679862.1:c.2076A>G	ENSP00000504990.1:p.Glu692=
ENST00000679902.1:c.2214A>G	ENSP00000506338.1:p.Glu738=
ENST00000680916.1:c.*179A>G	ENSP00000505769.1:n.*179A>G
ENST00000681335.1:c.2058A>G	ENSP00000505230.1:p.Glu686=
ENST00000681537.1:c.54A>G	ENSP00000505847.1:p.Glu18=
ENST00000681690.1:n.4019A>G
ENST00000358901.10:c.2214A>G	ENSP00000351777.6:p.Glu738=
ENST00000466100.1:n.357A>G
ENST00000493886.5:n.2488A>G
NM_007126.3:c.2214A>G , LRG_657t1:c.2214A>G	NP_009057.1:p.Glu738=
NM_001354927.1:c.2079A>G	NP_001341856.1:p.Glu693=
NM_001354928.1:c.2079A>G	NP_001341857.1:p.Glu693=
NM_007126.4:c.2214A>G	NP_009057.1:p.Glu738=
NM_007126.5:c.2214A>G MANE Select	NP_009057.1:p.Glu738=
NM_001354927.2:c.2079A>G	NP_001341856.1:p.Glu693=
NM_001354928.2:c.2079A>G	NP_001341857.1:p.Glu693=