Canonical Allele Identifier: CA16043020
Gene: ACTG1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372937
ClinVar RCV Id: RCV000413555
dbSNP Id: rs1057518086

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81512312C>G , CM000679.2:g.81512312C>G GRCh38
NC_000017.10:g.79479338C>G , CM000679.1:g.79479338C>G GRCh37
NC_000017.9:g.77093933C>G NCBI36
NG_011433.1:g.5490G>C

Transcript Alleles

HGVS Amino-acid change
NM_001199954.1:c.43G>C VV NP_001186883.1:p.Gly15Arg
NM_001614.3:c.43G>C VV NP_001605.1:p.Gly15Arg
NR_037688.1:n.182G>C
NM_001199954.2:c.43G>C VV
NM_001614.4:c.43G>C VV
NR_037688.2:n.115G>C
ENST00000331925.6:c.43G>C ENSP00000331514.2:p.Gly15Arg
ENST00000570382.1:c.43G>C ENSP00000466346.1:p.Gly15Arg
ENST00000571691.5:c.43G>C ENSP00000461407.1:p.Gly15Arg
ENST00000571721.5:c.43G>C ENSP00000460660.1:p.Gly15Arg
ENST00000572105.6:c.43G>C ENSP00000462823.1:p.Gly15Arg
ENST00000573283.5:c.43G>C ENSP00000458435.1:p.Gly15Arg
ENST00000575087.5:c.43G>C ENSP00000459124.1:p.Gly15Arg
ENST00000575659.5:c.43G>C ENSP00000459119.1:p.Gly15Arg
ENST00000575842.5:c.43G>C ENSP00000458162.1:p.Gly15Arg
ENST00000575994.5:c.43G>C ENSP00000460464.1:p.Gly15Arg
ENST00000576214.2:n.64G>C
ENST00000576544.5:c.43G>C ENSP00000461672.1:p.Gly15Arg
ENST00000576917.5:n.96G>C
ENST00000615544.4:c.43G>C ENSP00000477968.1:p.Gly15Arg