Canonical Allele Identifier: CA401459975
Gene: ACTG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1308836
ClinVar RCV Id: RCV001754724
dbSNP Id: rs1555666640

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81511272A>G , CM000679.2:g.81511272A>G GRCh38
NC_000017.10:g.79478298A>G , CM000679.1:g.79478298A>G GRCh37
NC_000017.9:g.77092893A>G NCBI36
NG_011433.1:g.6530T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000570382.2:c.718T>C ENSP00000466346.2:p.Tyr240His
ENST00000571691.6:c.646T>C ENSP00000461407.2:p.Tyr216His
ENST00000571721.6:c.718T>C ENSP00000460660.2:p.Tyr240His
ENST00000572105.7:c.*162T>C ENSP00000462823.1:n.*162T>C
ENST00000573283.7:c.718T>C MANE Select ENSP00000458435.1:p.Tyr240His
ENST00000574671.6:n.1118T>C
ENST00000575659.6:c.718T>C ENSP00000459119.2:p.Tyr240His
ENST00000575994.6:c.718T>C ENSP00000460464.2:p.Tyr240His
ENST00000576214.3:n.1019T>C
ENST00000576544.6:c.718T>C ENSP00000461672.1:p.Tyr240His
ENST00000615544.5:c.718T>C ENSP00000477968.1:p.Tyr240His
ENST00000644774.2:c.691T>C ENSP00000493648.2:p.Tyr231His
ENST00000679410.1:n.842T>C
ENST00000679480.1:c.718T>C ENSP00000506201.1:p.Tyr240His
ENST00000679535.1:n.1019T>C
ENST00000679778.1:c.718T>C ENSP00000505235.1:p.Tyr240His
ENST00000680227.1:c.718T>C ENSP00000506253.1:p.Tyr240His
ENST00000680727.1:c.718T>C ENSP00000505193.1:p.Tyr240His
ENST00000681052.1:c.718T>C ENSP00000505060.1:p.Tyr240His
ENST00000681092.1:c.*522T>C ENSP00000506720.1:n.*522T>C
ENST00000681842.1:c.718T>C ENSP00000506126.1:p.Tyr240His
ENST00000331925.6:c.718T>C ENSP00000331514.2:p.Tyr240His
ENST00000571691.5:c.691T>C ENSP00000461407.1:p.Tyr231His
ENST00000572105.6:c.*162T>C ENSP00000462823.1:n.*162T>C
ENST00000573283.5:c.718T>C ENSP00000458435.1:p.Tyr240His
ENST00000574671.5:n.577T>C
ENST00000575087.5:c.718T>C ENSP00000459124.1:p.Tyr240His
ENST00000575842.5:c.718T>C ENSP00000458162.1:p.Tyr240His
ENST00000576209.5:n.603T>C
ENST00000576214.2:n.916T>C
ENST00000576544.5:c.718T>C ENSP00000461672.1:p.Tyr240His
ENST00000576917.5:n.771T>C
ENST00000615544.4:c.718T>C ENSP00000477968.1:p.Tyr240His
NM_001199954.1:c.718T>C NP_001186883.1:p.Tyr240His
NM_001614.3:c.718T>C NP_001605.1:p.Tyr240His
NR_037688.1:n.857T>C
NM_001199954.2:c.718T>C NP_001186883.1:p.Tyr240His
NM_001614.4:c.718T>C NP_001605.1:p.Tyr240His
NR_037688.2:n.790T>C
NM_001614.5:c.718T>C MANE Select NP_001605.1:p.Tyr240His
NR_037688.3:n.790T>C
NM_001199954.3:c.718T>C NP_001186883.1:p.Tyr240His