Canonical Allele Identifier: CA8836274

Gene: ACTG1

Linked Data

• ClinVar Variation Id: 1211459
• ClinVar RCV Id: RCV001583268 ; RCV003771768
• dbSNP Id: rs200772616
• ExAC: 17:79478941 C / T
• gnomAD v2: 17-79478941-C-T
• gnomAD v3: 17-81511915-C-T
• gnomAD v4: 17-81511915-C-T
• COSMIC: COSM3523608
• MyVariant Identifiers: chr17:g.79478941C>T (hg19) ; chr17:g.81511915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511915C>T , CM000679.2:g.81511915C>T	GRCh38
NC_000017.10:g.79478941C>T , CM000679.1:g.79478941C>T	GRCh37
NC_000017.9:g.77093536C>T	NCBI36
NG_011433.1:g.5887G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000570382.2:c.351G>A	ENSP00000466346.2:p.Glu117=
ENST00000571691.6:c.339+12G>A	ENSP00000461407.2:n.339+12G>A
ENST00000571721.6:c.351G>A	ENSP00000460660.2:p.Glu117=
ENST00000572105.7:c.351G>A	ENSP00000462823.1:p.Glu117=
ENST00000573283.7:c.351G>A MANE Select	ENSP00000458435.1:p.Glu117=
ENST00000574671.6:n.475G>A
ENST00000575659.6:c.351G>A	ENSP00000459119.2:p.Glu117=
ENST00000575994.6:c.351G>A	ENSP00000460464.2:p.Glu117=
ENST00000576214.3:n.475G>A
ENST00000576544.6:c.351G>A	ENSP00000461672.1:p.Glu117=
ENST00000615544.5:c.351G>A	ENSP00000477968.1:p.Glu117=
ENST00000644774.2:c.324G>A	ENSP00000493648.2:p.Glu108=
ENST00000679410.1:n.475G>A
ENST00000679480.1:c.351G>A	ENSP00000506201.1:p.Glu117=
ENST00000679535.1:n.475G>A
ENST00000679778.1:c.351G>A	ENSP00000505235.1:p.Glu117=
ENST00000680227.1:c.351G>A	ENSP00000506253.1:p.Glu117=
ENST00000680727.1:c.351G>A	ENSP00000505193.1:p.Glu117=
ENST00000681052.1:c.351G>A	ENSP00000505060.1:p.Glu117=
ENST00000681092.1:c.*155G>A	ENSP00000506720.1:n.*155G>A
ENST00000681842.1:c.351G>A	ENSP00000506126.1:p.Glu117=
ENST00000331925.6:c.351G>A	ENSP00000331514.2:p.Glu117=
ENST00000570382.1:c.339+12G>A	ENSP00000466346.1:n.339+12G>A
ENST00000571691.5:c.324G>A	ENSP00000461407.1:p.Glu108=
ENST00000571721.5:c.351G>A	ENSP00000460660.1:p.Glu117=
ENST00000572105.6:c.351G>A	ENSP00000462823.1:p.Glu117=
ENST00000573283.5:c.351G>A	ENSP00000458435.1:p.Glu117=
ENST00000575087.5:c.351G>A	ENSP00000459124.1:p.Glu117=
ENST00000575659.5:c.351G>A	ENSP00000459119.1:p.Glu117=
ENST00000575842.5:c.351G>A	ENSP00000458162.1:p.Glu117=
ENST00000575994.5:c.351G>A	ENSP00000460464.1:p.Glu117=
ENST00000576209.5:n.236G>A
ENST00000576214.2:n.372G>A
ENST00000576544.5:c.351G>A	ENSP00000461672.1:p.Glu117=
ENST00000576917.5:n.404G>A
ENST00000615544.4:c.351G>A	ENSP00000477968.1:p.Glu117=
NM_001199954.1:c.351G>A	NP_001186883.1:p.Glu117=
NM_001614.3:c.351G>A	NP_001605.1:p.Glu117=
NR_037688.1:n.490G>A
NM_001199954.2:c.351G>A	NP_001186883.1:p.Glu117=
NM_001614.4:c.351G>A	NP_001605.1:p.Glu117=
NR_037688.2:n.423G>A
NM_001614.5:c.351G>A MANE Select	NP_001605.1:p.Glu117=
NR_037688.3:n.423G>A
NM_001199954.3:c.351G>A	NP_001186883.1:p.Glu117=