Canonical Allele Identifier: CA401459251

Gene: ACTG1

Linked Data

• dbSNP Id: rs1848460133
• gnomAD v3: 17-81511046-T-C
• gnomAD v4: 17-81511046-T-C
• MyVariant Identifiers: chr17:g.79478072T>C (hg19) ; chr17:g.81511046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511046T>C , CM000679.2:g.81511046T>C	GRCh38
NC_000017.10:g.79478072T>C , CM000679.1:g.79478072T>C	GRCh37
NC_000017.9:g.77092667T>C	NCBI36
NG_011433.1:g.6756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.865A>G	ENSP00000466346.2:p.Ile289Val
ENST00000571691.6:c.793A>G	ENSP00000461407.2:p.Ile265Val
ENST00000571721.6:c.865A>G	ENSP00000460660.2:p.Ile289Val
ENST00000572105.7:c.*309A>G	ENSP00000462823.1:n.*309A>G
ENST00000573283.7:c.865A>G MANE Select	ENSP00000458435.1:p.Ile289Val
ENST00000574671.6:n.1265A>G
ENST00000575659.6:c.865A>G	ENSP00000459119.2:p.Ile289Val
ENST00000575994.6:c.865A>G	ENSP00000460464.2:p.Ile289Val
ENST00000576214.3:n.1166A>G
ENST00000576544.6:c.865A>G	ENSP00000461672.1:p.Ile289Val
ENST00000615544.5:c.865A>G	ENSP00000477968.1:p.Ile289Val
ENST00000644774.2:c.838A>G	ENSP00000493648.2:p.Ile280Val
ENST00000679410.1:n.1068A>G
ENST00000679480.1:c.865A>G	ENSP00000506201.1:p.Ile289Val
ENST00000679535.1:n.1166A>G
ENST00000679778.1:c.865A>G	ENSP00000505235.1:p.Ile289Val
ENST00000680227.1:c.865A>G	ENSP00000506253.1:p.Ile289Val
ENST00000680727.1:c.865A>G	ENSP00000505193.1:p.Ile289Val
ENST00000681052.1:c.865A>G	ENSP00000505060.1:p.Ile289Val
ENST00000681092.1:c.*669A>G	ENSP00000506720.1:n.*669A>G
ENST00000681842.1:c.865A>G	ENSP00000506126.1:p.Ile289Val
ENST00000331925.6:c.865A>G	ENSP00000331514.2:p.Ile289Val
ENST00000572105.6:c.*309A>G	ENSP00000462823.1:n.*309A>G
ENST00000573283.5:c.865A>G	ENSP00000458435.1:p.Ile289Val
ENST00000574671.5:n.724A>G
ENST00000575087.5:c.865A>G	ENSP00000459124.1:p.Ile289Val
ENST00000575842.5:c.865A>G	ENSP00000458162.1:p.Ile289Val
ENST00000576209.5:n.750A>G
ENST00000576544.5:c.865A>G	ENSP00000461672.1:p.Ile289Val
ENST00000576917.5:n.997A>G
ENST00000615544.4:c.865A>G	ENSP00000477968.1:p.Ile289Val
NM_001199954.1:c.865A>G	NP_001186883.1:p.Ile289Val
NM_001614.3:c.865A>G	NP_001605.1:p.Ile289Val
NR_037688.1:n.1004A>G
NM_001199954.2:c.865A>G	NP_001186883.1:p.Ile289Val
NM_001614.4:c.865A>G	NP_001605.1:p.Ile289Val
NR_037688.2:n.937A>G
NM_001614.5:c.865A>G MANE Select	NP_001605.1:p.Ile289Val
NR_037688.3:n.937A>G
NM_001199954.3:c.865A>G	NP_001186883.1:p.Ile289Val