Canonical Allele Identifier: CA254400

Gene: VCP

Linked Data

• ClinVar Variation Id: 8470
• ClinVar RCV Id: RCV000008991 ; RCV001172005
• dbSNP Id: rs121909331
• MyVariant Identifiers: chr9:g.35064164G>T (hg19) ; chr9:g.35064167G>T (hg38)
• PubMed: PMID:15034582

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35064167G>T , CM000671.2:g.35064167G>T	GRCh38
NC_000009.11:g.35064164G>T , CM000671.1:g.35064164G>T	GRCh37
NC_000009.10:g.35054164G>T	NCBI36
NG_007887.1:g.13576C>A , LRG_657:g.13576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358901.11:c.695C>A MANE Select	ENSP00000351777.6:p.Ala232Glu
ENST00000417448.2:c.560C>A	ENSP00000399456.2:p.Ala187Glu
ENST00000448530.6:c.560C>A	ENSP00000392088.2:p.Ala187Glu
ENST00000480327.2:n.967C>A
ENST00000676836.2:n.1041C>A
ENST00000677257.1:c.689C>A	ENSP00000504354.1:p.Ala230Glu
ENST00000678018.1:c.*666C>A	ENSP00000503811.1:n.*666C>A
ENST00000678465.1:c.695C>A	ENSP00000504259.1:p.Ala232Glu
ENST00000678650.1:c.560C>A	ENSP00000503426.1:p.Ala187Glu
ENST00000679204.2:c.695C>A	ENSP00000503131.2:p.Ala232Glu
ENST00000679599.1:n.965C>A
ENST00000679647.1:c.695C>A	ENSP00000506216.1:p.Ala232Glu
ENST00000679800.1:n.1016C>A
ENST00000679862.1:c.560C>A	ENSP00000504990.1:p.Ala187Glu
ENST00000679902.1:c.695C>A	ENSP00000506338.1:p.Ala232Glu
ENST00000680520.1:c.347C>A
ENST00000680731.1:c.*183C>A	ENSP00000505497.1:n.*183C>A
ENST00000680834.1:c.58+1084C>A
ENST00000680916.1:c.695C>A	ENSP00000505769.1:p.Ala232Glu
ENST00000681335.1:c.695C>A	ENSP00000505230.1:p.Ala232Glu
ENST00000681690.1:n.967C>A
ENST00000681789.1:c.248C>A
ENST00000358901.10:c.695C>A	ENSP00000351777.6:p.Ala232Glu
ENST00000493886.5:n.891C>A
NM_007126.3:c.695C>A , LRG_657t1:c.695C>A	NP_009057.1:p.Ala232Glu
NM_001354927.1:c.560C>A	NP_001341856.1:p.Ala187Glu
NM_001354928.1:c.560C>A	NP_001341857.1:p.Ala187Glu
NM_007126.4:c.695C>A	NP_009057.1:p.Ala232Glu
NM_007126.5:c.695C>A MANE Select	NP_009057.1:p.Ala232Glu
NM_001354927.2:c.560C>A	NP_001341856.1:p.Ala187Glu
NM_001354928.2:c.560C>A	NP_001341857.1:p.Ala187Glu