Canonical Allele Identifier: CA8836055

Gene: ACTG1

Linked Data

• ClinVar Variation Id: 505063
• ClinVar RCV Id: RCV000614857
• dbSNP Id: rs781945750
• ExAC: 17:79478468 C / T
• gnomAD v2: 17-79478468-C-T
• gnomAD v4: 17-81511442-C-T
• MyVariant Identifiers: chr17:g.79478468C>T (hg19) ; chr17:g.81511442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511442C>T , CM000679.2:g.81511442C>T	GRCh38
NC_000017.10:g.79478468C>T , CM000679.1:g.79478468C>T	GRCh37
NC_000017.9:g.77093063C>T	NCBI36
NG_011433.1:g.6360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.548G>A	ENSP00000466346.2:p.Arg183Gln
ENST00000571691.6:c.476G>A	ENSP00000461407.2:p.Arg159Gln
ENST00000571721.6:c.548G>A	ENSP00000460660.2:p.Arg183Gln
ENST00000572105.7:c.589G>A	ENSP00000462823.1:p.Gly197Arg
ENST00000573283.7:c.548G>A MANE Select	ENSP00000458435.1:p.Arg183Gln
ENST00000574671.6:n.948G>A
ENST00000575659.6:c.548G>A	ENSP00000459119.2:p.Arg183Gln
ENST00000575994.6:c.548G>A	ENSP00000460464.2:p.Arg183Gln
ENST00000576214.3:n.849G>A
ENST00000576544.6:c.548G>A	ENSP00000461672.1:p.Arg183Gln
ENST00000615544.5:c.548G>A	ENSP00000477968.1:p.Arg183Gln
ENST00000644774.2:c.521G>A	ENSP00000493648.2:p.Arg174Gln
ENST00000679410.1:n.672G>A
ENST00000679480.1:c.548G>A	ENSP00000506201.1:p.Arg183Gln
ENST00000679535.1:n.849G>A
ENST00000679778.1:c.548G>A	ENSP00000505235.1:p.Arg183Gln
ENST00000680227.1:c.548G>A	ENSP00000506253.1:p.Arg183Gln
ENST00000680727.1:c.548G>A	ENSP00000505193.1:p.Arg183Gln
ENST00000681052.1:c.548G>A	ENSP00000505060.1:p.Arg183Gln
ENST00000681092.1:c.*352G>A	ENSP00000506720.1:n.*352G>A
ENST00000681842.1:c.548G>A	ENSP00000506126.1:p.Arg183Gln
ENST00000331925.6:c.548G>A	ENSP00000331514.2:p.Arg183Gln
ENST00000571691.5:c.521G>A	ENSP00000461407.1:p.Arg174Gln
ENST00000572105.6:c.589G>A	ENSP00000462823.1:p.Gly197Arg
ENST00000573283.5:c.548G>A	ENSP00000458435.1:p.Arg183Gln
ENST00000574671.5:n.407G>A
ENST00000575087.5:c.548G>A	ENSP00000459124.1:p.Arg183Gln
ENST00000575659.5:c.548G>A	ENSP00000459119.1:p.Arg183Gln
ENST00000575842.5:c.548G>A	ENSP00000458162.1:p.Arg183Gln
ENST00000575994.5:c.548G>A	ENSP00000460464.1:p.Arg183Gln
ENST00000576209.5:n.433G>A
ENST00000576214.2:n.746G>A
ENST00000576544.5:c.548G>A	ENSP00000461672.1:p.Arg183Gln
ENST00000576917.5:n.601G>A
ENST00000615544.4:c.548G>A	ENSP00000477968.1:p.Arg183Gln
NM_001199954.1:c.548G>A	NP_001186883.1:p.Arg183Gln
NM_001614.3:c.548G>A	NP_001605.1:p.Arg183Gln
NR_037688.1:n.687G>A
NM_001199954.2:c.548G>A	NP_001186883.1:p.Arg183Gln
NM_001614.4:c.548G>A	NP_001605.1:p.Arg183Gln
NR_037688.2:n.620G>A
NM_001614.5:c.548G>A MANE Select	NP_001605.1:p.Arg183Gln
NR_037688.3:n.620G>A
NM_001199954.3:c.548G>A	NP_001186883.1:p.Arg183Gln