Canonical Allele Identifier: CA258160
Gene: ACTG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18318
dbSNP Id: rs104894546

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81511199G>A , CM000679.2:g.81511199G>A GRCh38
NC_000017.10:g.79478225G>A , CM000679.1:g.79478225G>A GRCh37
NC_000017.9:g.77092820G>A NCBI36
NG_011433.1:g.6603C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000570382.2:c.791C>T ENSP00000466346.2:p.Pro264Leu
ENST00000571691.6:c.719C>T ENSP00000461407.2:p.Pro240Leu
ENST00000571721.6:c.791C>T ENSP00000460660.2:p.Pro264Leu
ENST00000572105.7:c.*235C>T ENSP00000462823.1:p.=
ENST00000573283.7:c.791C>T MANE Select ENSP00000458435.1:p.Pro264Leu
ENST00000574671.6:n.1191C>T
ENST00000575659.6:c.791C>T ENSP00000459119.2:p.Pro264Leu
ENST00000575994.6:c.791C>T ENSP00000460464.2:p.Pro264Leu
ENST00000576214.3:n.1092C>T
ENST00000576544.6:c.791C>T ENSP00000461672.1:p.Pro264Leu
ENST00000615544.5:c.791C>T ENSP00000477968.1:p.Pro264Leu
ENST00000644774.2:c.764C>T ENSP00000493648.2:p.Pro255Leu
ENST00000679410.1:n.915C>T
ENST00000679480.1:c.791C>T ENSP00000506201.1:p.Pro264Leu
ENST00000679535.1:n.1092C>T
ENST00000679778.1:c.791C>T ENSP00000505235.1:p.Pro264Leu
ENST00000680227.1:c.791C>T ENSP00000506253.1:p.Pro264Leu
ENST00000680727.1:c.791C>T ENSP00000505193.1:p.Pro264Leu
ENST00000681052.1:c.791C>T ENSP00000505060.1:p.Pro264Leu
ENST00000681092.1:c.*595C>T ENSP00000506720.1:p.=
ENST00000681842.1:c.791C>T ENSP00000506126.1:p.Pro264Leu
ENST00000331925.6:c.791C>T ENSP00000331514.2:p.Pro264Leu
ENST00000572105.6:c.*235C>T ENSP00000462823.1:p.=
ENST00000573283.5:c.791C>T ENSP00000458435.1:p.Pro264Leu
ENST00000574671.5:n.650C>T
ENST00000575087.5:c.791C>T ENSP00000459124.1:p.Pro264Leu
ENST00000575842.5:c.791C>T ENSP00000458162.1:p.Pro264Leu
ENST00000576209.5:n.676C>T
ENST00000576214.2:n.989C>T
ENST00000576544.5:c.791C>T ENSP00000461672.1:p.Pro264Leu
ENST00000576917.5:n.844C>T
ENST00000615544.4:c.791C>T ENSP00000477968.1:p.Pro264Leu
NM_001199954.1:c.791C>T NP_001186883.1:p.Pro264Leu
NM_001614.3:c.791C>T NP_001605.1:p.Pro264Leu
NR_037688.1:n.930C>T
NM_001199954.2:c.791C>T NP_001186883.1:p.Pro264Leu
NM_001614.4:c.791C>T NP_001605.1:p.Pro264Leu
NR_037688.2:n.863C>T
NM_001614.5:c.791C>T MANE Select NP_001605.1:p.Pro264Leu
NR_037688.3:n.863C>T
NM_001199954.3:c.791C>T NP_001186883.1:p.Pro264Leu