Canonical Allele Identifier: CA502419519

Gene: ACTG1

Linked Data

• MyVariant Identifiers: chr17:g.79478614C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511588C>A , CM000679.2:g.81511588C>A	GRCh38
NC_000017.10:g.79478614C>A , CM000679.1:g.79478614C>A	GRCh37
NC_000017.9:g.77093209C>A	NCBI36
NG_011433.1:g.6214G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000570382.2:c.402G>T	ENSP00000466346.2:p.Val134=
ENST00000571691.6:c.340-10G>T	ENSP00000461407.2:n.340-10G>T
ENST00000571721.6:c.402G>T	ENSP00000460660.2:p.Val134=
ENST00000572105.7:c.443G>T	ENSP00000462823.1:p.Trp148Leu
ENST00000573283.7:c.402G>T MANE Select	ENSP00000458435.1:p.Val134=
ENST00000574671.6:n.802G>T
ENST00000575659.6:c.402G>T	ENSP00000459119.2:p.Val134=
ENST00000575994.6:c.402G>T	ENSP00000460464.2:p.Val134=
ENST00000576214.3:n.703G>T
ENST00000576544.6:c.402G>T	ENSP00000461672.1:p.Val134=
ENST00000615544.5:c.402G>T	ENSP00000477968.1:p.Val134=
ENST00000644774.2:c.375G>T	ENSP00000493648.2:p.Val125=
ENST00000679410.1:n.526G>T
ENST00000679480.1:c.402G>T	ENSP00000506201.1:p.Val134=
ENST00000679535.1:n.703G>T
ENST00000679778.1:c.402G>T	ENSP00000505235.1:p.Val134=
ENST00000680227.1:c.402G>T	ENSP00000506253.1:p.Val134=
ENST00000680727.1:c.402G>T	ENSP00000505193.1:p.Val134=
ENST00000681052.1:c.402G>T	ENSP00000505060.1:p.Val134=
ENST00000681092.1:c.*206G>T	ENSP00000506720.1:n.*206G>T
ENST00000681842.1:c.402G>T	ENSP00000506126.1:p.Val134=
ENST00000331925.6:c.402G>T	ENSP00000331514.2:p.Val134=
ENST00000570382.1:c.340-10G>T	ENSP00000466346.1:n.340-10G>T
ENST00000571691.5:c.375G>T	ENSP00000461407.1:p.Val125=
ENST00000571721.5:c.402G>T	ENSP00000460660.1:p.Val134=
ENST00000572105.6:c.443G>T	ENSP00000462823.1:p.Trp148Leu
ENST00000573283.5:c.402G>T	ENSP00000458435.1:p.Val134=
ENST00000574671.5:n.261G>T
ENST00000575087.5:c.402G>T	ENSP00000459124.1:p.Val134=
ENST00000575659.5:c.402G>T	ENSP00000459119.1:p.Val134=
ENST00000575842.5:c.402G>T	ENSP00000458162.1:p.Val134=
ENST00000575994.5:c.402G>T	ENSP00000460464.1:p.Val134=
ENST00000576209.5:n.287G>T
ENST00000576214.2:n.600G>T
ENST00000576544.5:c.402G>T	ENSP00000461672.1:p.Val134=
ENST00000576917.5:n.455G>T
ENST00000615544.4:c.402G>T	ENSP00000477968.1:p.Val134=
NM_001199954.1:c.402G>T	NP_001186883.1:p.Val134=
NM_001614.3:c.402G>T	NP_001605.1:p.Val134=
NR_037688.1:n.541G>T
NM_001199954.2:c.402G>T	NP_001186883.1:p.Val134=
NM_001614.4:c.402G>T	NP_001605.1:p.Val134=
NR_037688.2:n.474G>T
NM_001614.5:c.402G>T MANE Select	NP_001605.1:p.Val134=
NR_037688.3:n.474G>T
NM_001199954.3:c.402G>T	NP_001186883.1:p.Val134=