Canonical Allele Identifier: CA8835927

Gene: ACTG1

Linked Data

• ClinVar Variation Id: 289432
• ClinVar RCV Id: RCV000281379 ; RCV000680324 ; RCV003765664 ; RCV003930168
• dbSNP Id: rs145303691
• ExAC: 17:79478112 G / A
• gnomAD v2: 17-79478112-G-A
• gnomAD v3: 17-81511086-G-A
• gnomAD v4: 17-81511086-G-A
• MyVariant Identifiers: chr17:g.79478112G>A (hg19) ; chr17:g.81511086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511086G>A , CM000679.2:g.81511086G>A	GRCh38
NC_000017.10:g.79478112G>A , CM000679.1:g.79478112G>A	GRCh37
NC_000017.9:g.77092707G>A	NCBI36
NG_011433.1:g.6716C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000570382.2:c.825C>T	ENSP00000466346.2:p.His275=
ENST00000571691.6:c.753C>T	ENSP00000461407.2:p.His251=
ENST00000571721.6:c.825C>T	ENSP00000460660.2:p.His275=
ENST00000572105.7:c.*269C>T	ENSP00000462823.1:n.*269C>T
ENST00000573283.7:c.825C>T MANE Select	ENSP00000458435.1:p.His275=
ENST00000574671.6:n.1225C>T
ENST00000575659.6:c.825C>T	ENSP00000459119.2:p.His275=
ENST00000575994.6:c.825C>T	ENSP00000460464.2:p.His275=
ENST00000576214.3:n.1126C>T
ENST00000576544.6:c.825C>T	ENSP00000461672.1:p.His275=
ENST00000615544.5:c.825C>T	ENSP00000477968.1:p.His275=
ENST00000644774.2:c.798C>T	ENSP00000493648.2:p.His266=
ENST00000679410.1:n.1028C>T
ENST00000679480.1:c.825C>T	ENSP00000506201.1:p.His275=
ENST00000679535.1:n.1126C>T
ENST00000679778.1:c.825C>T	ENSP00000505235.1:p.His275=
ENST00000680227.1:c.825C>T	ENSP00000506253.1:p.His275=
ENST00000680727.1:c.825C>T	ENSP00000505193.1:p.His275=
ENST00000681052.1:c.825C>T	ENSP00000505060.1:p.His275=
ENST00000681092.1:c.*629C>T	ENSP00000506720.1:n.*629C>T
ENST00000681842.1:c.825C>T	ENSP00000506126.1:p.His275=
ENST00000331925.6:c.825C>T	ENSP00000331514.2:p.His275=
ENST00000572105.6:c.*269C>T	ENSP00000462823.1:n.*269C>T
ENST00000573283.5:c.825C>T	ENSP00000458435.1:p.His275=
ENST00000574671.5:n.684C>T
ENST00000575087.5:c.825C>T	ENSP00000459124.1:p.His275=
ENST00000575842.5:c.825C>T	ENSP00000458162.1:p.His275=
ENST00000576209.5:n.710C>T
ENST00000576214.2:n.1023C>T
ENST00000576544.5:c.825C>T	ENSP00000461672.1:p.His275=
ENST00000576917.5:n.957C>T
ENST00000615544.4:c.825C>T	ENSP00000477968.1:p.His275=
NM_001199954.1:c.825C>T	NP_001186883.1:p.His275=
NM_001614.3:c.825C>T	NP_001605.1:p.His275=
NR_037688.1:n.964C>T
NM_001199954.2:c.825C>T	NP_001186883.1:p.His275=
NM_001614.4:c.825C>T	NP_001605.1:p.His275=
NR_037688.2:n.897C>T
NM_001614.5:c.825C>T MANE Select	NP_001605.1:p.His275=
NR_037688.3:n.897C>T
NM_001199954.3:c.825C>T	NP_001186883.1:p.His275=