Canonical Allele Identifier: CA128983

Gene: VCP

Linked Data

• ClinVar Variation Id: 8468
• ClinVar RCV Id: RCV000008989 ; RCV000540496 ; RCV000523065 ; RCV001271089 ; RCV002336080
• dbSNP Id: rs121909329
• gnomAD v4: 9-35065363-C-T
• MyVariant Identifiers: chr9:g.35065360C>T (hg19) ; chr9:g.35065363C>T (hg38)
• PubMed: PMID:15034582 ; PMID:16321991 ; PMID:18341608 ; PMID:21145000 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35065363C>T , CM000671.2:g.35065363C>T	GRCh38
NC_000009.11:g.35065360C>T , CM000671.1:g.35065360C>T	GRCh37
NC_000009.10:g.35055360C>T	NCBI36
NG_007887.1:g.12380G>A , LRG_657:g.12380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358901.11:c.464G>A MANE Select	ENSP00000351777.6:p.Arg155His
ENST00000417448.2:c.329G>A	ENSP00000399456.2:p.Arg110His
ENST00000448530.6:c.329G>A	ENSP00000392088.2:p.Arg110His
ENST00000480327.2:n.736G>A
ENST00000676836.2:n.810G>A
ENST00000677257.1:c.458G>A	ENSP00000504354.1:p.Arg153His
ENST00000678018.1:c.*435G>A	ENSP00000503811.1:n.*435G>A
ENST00000678465.1:c.464G>A	ENSP00000504259.1:p.Arg155His
ENST00000678650.1:c.329G>A	ENSP00000503426.1:p.Arg110His
ENST00000679204.2:c.464G>A	ENSP00000503131.2:p.Arg155His
ENST00000679599.1:n.734G>A
ENST00000679647.1:c.464G>A	ENSP00000506216.1:p.Arg155His
ENST00000679800.1:n.785G>A
ENST00000679862.1:c.329G>A	ENSP00000504990.1:p.Arg110His
ENST00000679902.1:c.464G>A	ENSP00000506338.1:p.Arg155His
ENST00000680520.1:c.19G>A
ENST00000680731.1:c.186G>A	ENSP00000505497.1:p.Pro62=
ENST00000680916.1:c.464G>A	ENSP00000505769.1:p.Arg155His
ENST00000681335.1:c.464G>A	ENSP00000505230.1:p.Arg155His
ENST00000681562.1:c.216G>A
ENST00000681690.1:n.736G>A
ENST00000681789.1:c.19G>A
ENST00000681845.1:c.630G>A
ENST00000358901.10:c.464G>A	ENSP00000351777.6:p.Arg155His
ENST00000417448.1:c.329G>A	ENSP00000399456.1:p.Arg110His
ENST00000448530.5:c.329G>A	ENSP00000392088.1:p.Arg110His
ENST00000493886.5:n.660G>A
NM_007126.3:c.464G>A , LRG_657t1:c.464G>A	NP_009057.1:p.Arg155His
NM_001354927.1:c.329G>A	NP_001341856.1:p.Arg110His
NM_001354928.1:c.329G>A	NP_001341857.1:p.Arg110His
NM_007126.4:c.464G>A	NP_009057.1:p.Arg155His
NM_007126.5:c.464G>A MANE Select	NP_009057.1:p.Arg155His
NM_001354927.2:c.329G>A	NP_001341856.1:p.Arg110His
NM_001354928.2:c.329G>A	NP_001341857.1:p.Arg110His