Canonical Allele Identifier: CA219954
Gene: ACTG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18322
dbSNP Id: rs267606631

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81511269C>T , CM000679.2:g.81511269C>T GRCh38
NC_000017.10:g.79478295C>T , CM000679.1:g.79478295C>T GRCh37
NC_000017.9:g.77092890C>T NCBI36
NG_011433.1:g.6533G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000570382.2:c.721G>A ENSP00000466346.2:p.Glu241Lys
ENST00000571691.6:c.649G>A ENSP00000461407.2:p.Glu217Lys
ENST00000571721.6:c.721G>A ENSP00000460660.2:p.Glu241Lys
ENST00000572105.7:c.*165G>A ENSP00000462823.1:p.=
ENST00000573283.7:c.721G>A MANE Select ENSP00000458435.1:p.Glu241Lys
ENST00000574671.6:n.1121G>A
ENST00000575659.6:c.721G>A ENSP00000459119.2:p.Glu241Lys
ENST00000575994.6:c.721G>A ENSP00000460464.2:p.Glu241Lys
ENST00000576214.3:n.1022G>A
ENST00000576544.6:c.721G>A ENSP00000461672.1:p.Glu241Lys
ENST00000615544.5:c.721G>A ENSP00000477968.1:p.Glu241Lys
ENST00000644774.2:c.694G>A ENSP00000493648.2:p.Glu232Lys
ENST00000679410.1:n.845G>A
ENST00000679480.1:c.721G>A ENSP00000506201.1:p.Glu241Lys
ENST00000679535.1:n.1022G>A
ENST00000679778.1:c.721G>A ENSP00000505235.1:p.Glu241Lys
ENST00000680227.1:c.721G>A ENSP00000506253.1:p.Glu241Lys
ENST00000680727.1:c.721G>A ENSP00000505193.1:p.Glu241Lys
ENST00000681052.1:c.721G>A ENSP00000505060.1:p.Glu241Lys
ENST00000681092.1:c.*525G>A ENSP00000506720.1:p.=
ENST00000681842.1:c.721G>A ENSP00000506126.1:p.Glu241Lys
ENST00000331925.6:c.721G>A ENSP00000331514.2:p.Glu241Lys
ENST00000571691.5:c.694G>A ENSP00000461407.1:p.Glu232Lys
ENST00000572105.6:c.*165G>A ENSP00000462823.1:p.=
ENST00000573283.5:c.721G>A ENSP00000458435.1:p.Glu241Lys
ENST00000574671.5:n.580G>A
ENST00000575087.5:c.721G>A ENSP00000459124.1:p.Glu241Lys
ENST00000575842.5:c.721G>A ENSP00000458162.1:p.Glu241Lys
ENST00000576209.5:n.606G>A
ENST00000576214.2:n.919G>A
ENST00000576544.5:c.721G>A ENSP00000461672.1:p.Glu241Lys
ENST00000576917.5:n.774G>A
ENST00000615544.4:c.721G>A ENSP00000477968.1:p.Glu241Lys
NM_001199954.1:c.721G>A NP_001186883.1:p.Glu241Lys
NM_001614.3:c.721G>A NP_001605.1:p.Glu241Lys
NR_037688.1:n.860G>A
NM_001199954.2:c.721G>A NP_001186883.1:p.Glu241Lys
NM_001614.4:c.721G>A NP_001605.1:p.Glu241Lys
NR_037688.2:n.793G>A
NM_001614.5:c.721G>A MANE Select NP_001605.1:p.Glu241Lys
NR_037688.3:n.793G>A
NM_001199954.3:c.721G>A NP_001186883.1:p.Glu241Lys