Canonical Allele Identifier: CA5039548
Gene: VCP HGNC NCBI

Linked Data

ClinVar Variation Id: 260121
dbSNP Id: rs10972300
gnomAD v2: 9-35068201-C-T
gnomAD v3: 9-35068204-C-T
gnomAD v4: 9-35068204-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35068204C>T , CM000671.2:g.35068204C>T GRCh38
NC_000009.11:g.35068201C>T , CM000671.1:g.35068201C>T GRCh37
NC_000009.10:g.35058201C>T NCBI36
NG_007887.1:g.9539G>A , LRG_657:g.9539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358901.11:c.129+47G>A MANE Select ENSP00000351777.6:n.129+47G>A
ENST00000417448.2:c.-7+47G>A ENSP00000399456.2:n.-7+47G>A
ENST00000448530.6:c.-7+47G>A ENSP00000392088.2:n.-7+47G>A
ENST00000480327.2:n.401+47G>A
ENST00000676836.2:n.392+47G>A
ENST00000677257.1:c.129+47G>A ENSP00000504354.1:n.129+47G>A
ENST00000678018.1:c.130-38G>A ENSP00000503811.1:n.130-38G>A
ENST00000678465.1:c.129+47G>A ENSP00000504259.1:n.129+47G>A
ENST00000678650.1:c.-7+47G>A ENSP00000503426.1:n.-7+47G>A
ENST00000679204.2:c.129+47G>A ENSP00000503131.2:n.129+47G>A
ENST00000679449.1:c.112+47G>A
ENST00000679599.1:n.399+47G>A
ENST00000679647.1:c.129+47G>A ENSP00000506216.1:n.129+47G>A
ENST00000679800.1:n.367+47G>A
ENST00000679862.1:c.-7+47G>A ENSP00000504990.1:n.-7+47G>A
ENST00000679902.1:c.129+47G>A ENSP00000506338.1:n.129+47G>A
ENST00000680079.1:c.*50+47G>A ENSP00000506523.1:n.*50+47G>A
ENST00000680900.1:c.112+47G>A
ENST00000680916.1:c.129+47G>A ENSP00000505769.1:n.129+47G>A
ENST00000681335.1:c.129+47G>A ENSP00000505230.1:n.129+47G>A
ENST00000681386.1:c.-6-141G>A ENSP00000505509.1:n.-6-141G>A
ENST00000681690.1:n.401+47G>A
ENST00000681845.1:c.295+47G>A
ENST00000358901.10:c.129+47G>A ENSP00000351777.6:n.129+47G>A
ENST00000417448.1:c.-7+47G>A ENSP00000399456.1:n.-7+47G>A
ENST00000448530.5:c.-7+47G>A ENSP00000392088.1:n.-7+47G>A
ENST00000493886.5:n.325+47G>A
NM_007126.3:c.129+47G>A , LRG_657t1:c.129+47G>A NP_009057.1:n.129+47G>A
NM_001354927.1:c.-7+47G>A NP_001341856.1:n.-7+47G>A
NM_001354928.1:c.-7+47G>A NP_001341857.1:n.-7+47G>A
NM_007126.4:c.129+47G>A NP_009057.1:n.129+47G>A
NM_007126.5:c.129+47G>A MANE Select NP_009057.1:n.129+47G>A
NM_001354927.2:c.-7+47G>A NP_001341856.1:n.-7+47G>A
NM_001354928.2:c.-7+47G>A NP_001341857.1:n.-7+47G>A