Canonical Allele Identifier: CA401458895

Gene: ACTG1

Linked Data

• ClinVar Variation Id: 3029257
• ClinVar RCV Id: RCV004548772
• MyVariant Identifiers: chr17:g.79477989C>G (hg19) ; chr17:g.81510963C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81510963C>G , CM000679.2:g.81510963C>G	GRCh38
NC_000017.10:g.79477989C>G , CM000679.1:g.79477989C>G	GRCh37
NC_000017.9:g.77092584C>G	NCBI36
NG_011433.1:g.6839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.948G>C	ENSP00000466346.2:p.Glu316Asp
ENST00000571691.6:c.876G>C	ENSP00000461407.2:p.Glu292Asp
ENST00000571721.6:c.948G>C	ENSP00000460660.2:p.Glu316Asp
ENST00000572105.7:c.*392G>C	ENSP00000462823.1:n.*392G>C
ENST00000573283.7:c.948G>C MANE Select	ENSP00000458435.1:p.Glu316Asp
ENST00000574671.6:n.1348G>C
ENST00000575659.6:c.948G>C	ENSP00000459119.2:p.Glu316Asp
ENST00000575994.6:c.948G>C	ENSP00000460464.2:p.Glu316Asp
ENST00000576214.3:n.1249G>C
ENST00000576544.6:c.948G>C	ENSP00000461672.1:p.Glu316Asp
ENST00000615544.5:c.948G>C	ENSP00000477968.1:p.Glu316Asp
ENST00000644774.2:c.921G>C	ENSP00000493648.2:p.Glu307Asp
ENST00000679410.1:n.1151G>C
ENST00000679480.1:c.948G>C	ENSP00000506201.1:p.Glu316Asp
ENST00000679535.1:n.1249G>C
ENST00000679778.1:c.948G>C	ENSP00000505235.1:p.Glu316Asp
ENST00000680227.1:c.948G>C	ENSP00000506253.1:p.Glu316Asp
ENST00000680727.1:c.948G>C	ENSP00000505193.1:p.Glu316Asp
ENST00000681052.1:c.948G>C	ENSP00000505060.1:p.Glu316Asp
ENST00000681092.1:c.*752G>C	ENSP00000506720.1:n.*752G>C
ENST00000681842.1:c.948G>C	ENSP00000506126.1:p.Glu316Asp
ENST00000331925.6:c.948G>C	ENSP00000331514.2:p.Glu316Asp
ENST00000572105.6:c.*392G>C	ENSP00000462823.1:n.*392G>C
ENST00000573283.5:c.948G>C	ENSP00000458435.1:p.Glu316Asp
ENST00000574671.5:n.807G>C
ENST00000575087.5:c.948G>C	ENSP00000459124.1:p.Glu316Asp
ENST00000575842.5:c.948G>C	ENSP00000458162.1:p.Glu316Asp
ENST00000576209.5:n.833G>C
ENST00000576544.5:c.948G>C	ENSP00000461672.1:p.Glu316Asp
ENST00000576917.5:n.1080G>C
ENST00000615544.4:c.948G>C	ENSP00000477968.1:p.Glu316Asp
NM_001199954.1:c.948G>C	NP_001186883.1:p.Glu316Asp
NM_001614.3:c.948G>C	NP_001605.1:p.Glu316Asp
NR_037688.1:n.1087G>C
NM_001199954.2:c.948G>C	NP_001186883.1:p.Glu316Asp
NM_001614.4:c.948G>C	NP_001605.1:p.Glu316Asp
NR_037688.2:n.1020G>C
NM_001614.5:c.948G>C MANE Select	NP_001605.1:p.Glu316Asp
NR_037688.3:n.1020G>C
NM_001199954.3:c.948G>C	NP_001186883.1:p.Glu316Asp