Canonical Allele Identifier: CA5039263

Gene: VCP

Linked Data

• ClinVar Variation Id: 366717
• ClinVar RCV Id: RCV000299794 ; RCV000354748 ; RCV003766109
• dbSNP Id: rs370296303
• ExAC: 9:35060926 A / G
• gnomAD v2: 9-35060926-A-G
• gnomAD v3: 9-35060929-A-G
• gnomAD v4: 9-35060929-A-G
• MyVariant Identifiers: chr9:g.35060926A>G (hg19) ; chr9:g.35060926_35060929delinsGAAG (hg19) ; chr9:g.35060929A>G (hg38) ; chr9:g.35060929_35060932delinsGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35060929A>G , CM000671.2:g.35060929A>G	GRCh38
NC_000009.11:g.35060926A>G , CM000671.1:g.35060926A>G	GRCh37
NC_000009.10:g.35050926A>G	NCBI36
NG_007887.1:g.16814T>C , LRG_657:g.16814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358901.11:c.1360-6T>C MANE Select	ENSP00000351777.6:n.1360-6T>C
ENST00000417448.2:c.1225-6T>C	ENSP00000399456.2:n.1225-6T>C
ENST00000448530.6:c.1225-6T>C	ENSP00000392088.2:n.1225-6T>C
ENST00000480327.2:n.1498-6T>C
ENST00000676836.2:n.2103-6T>C
ENST00000677257.1:c.1354-6T>C	ENSP00000504354.1:n.1354-6T>C
ENST00000678018.1:c.*1331-6T>C	ENSP00000503811.1:n.*1331-6T>C
ENST00000678465.1:c.*372-6T>C	ENSP00000504259.1:n.*372-6T>C
ENST00000678650.1:c.1225-6T>C	ENSP00000503426.1:n.1225-6T>C
ENST00000679204.2:c.1372T>C	ENSP00000503131.2:p.Phe458Leu
ENST00000679599.1:n.1630-6T>C
ENST00000679647.1:c.1360-6T>C	ENSP00000506216.1:n.1360-6T>C
ENST00000679800.1:n.1759-6T>C
ENST00000679862.1:c.1225-6T>C	ENSP00000504990.1:n.1225-6T>C
ENST00000679902.1:c.1360-6T>C	ENSP00000506338.1:n.1360-6T>C
ENST00000680916.1:c.1360-6T>C	ENSP00000505769.1:n.1360-6T>C
ENST00000681335.1:c.1360-6T>C	ENSP00000505230.1:n.1360-6T>C
ENST00000681690.1:n.1632-6T>C
ENST00000358901.10:c.1360-6T>C	ENSP00000351777.6:n.1360-6T>C
ENST00000480327.1:n.220-6T>C
ENST00000493886.5:n.1634-6T>C
NM_007126.3:c.1360-6T>C , LRG_657t1:c.1360-6T>C	NP_009057.1:n.1360-6T>C
NM_001354927.1:c.1225-6T>C	NP_001341856.1:n.1225-6T>C
NM_001354928.1:c.1225-6T>C	NP_001341857.1:n.1225-6T>C
NM_007126.4:c.1360-6T>C	NP_009057.1:n.1360-6T>C
NM_007126.5:c.1360-6T>C MANE Select	NP_009057.1:n.1360-6T>C
NM_001354927.2:c.1225-6T>C	NP_001341856.1:n.1225-6T>C
NM_001354928.2:c.1225-6T>C	NP_001341857.1:n.1225-6T>C