Canonical Allele Identifier: CA8836509

Gene: ACTG1

Linked Data

• ClinVar Variation Id: 506422
• ClinVar RCV Id: RCV000614759
• dbSNP Id: rs782107098
• ExAC: 17:79479800 T / C
• gnomAD v2: 17-79479800-T-C
• gnomAD v3: 17-81512774-T-C
• gnomAD v4: 17-81512774-T-C
• MyVariant Identifiers: chr17:g.79479800T>C (hg19) ; chr17:g.81512774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512774T>C , CM000679.2:g.81512774T>C	GRCh38
NC_000017.10:g.79479800T>C , CM000679.1:g.79479800T>C	GRCh37
NC_000017.9:g.77094395T>C	NCBI36
NG_011433.1:g.5028A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.-166A>G	ENSP00000466346.2:n.-166A>G
ENST00000571691.6:c.-47A>G	ENSP00000461407.2:n.-47A>G
ENST00000571721.6:c.-317A>G	ENSP00000460660.2:n.-317A>G
ENST00000572105.7:c.-47A>G	ENSP00000462823.1:n.-47A>G
ENST00000573283.7:c.-47A>G MANE Select	ENSP00000458435.1:n.-47A>G
ENST00000574671.6:n.78A>G
ENST00000575659.6:c.-6-414A>G	ENSP00000459119.2:n.-6-414A>G
ENST00000575994.6:c.-6-414A>G	ENSP00000460464.2:n.-6-414A>G
ENST00000576214.3:n.78A>G
ENST00000576544.6:c.-47A>G	ENSP00000461672.1:n.-47A>G
ENST00000615544.5:c.-6-414A>G	ENSP00000477968.1:n.-6-414A>G
ENST00000679410.1:n.78A>G
ENST00000679535.1:n.78A>G
ENST00000679778.1:c.-6-414A>G	ENSP00000505235.1:n.-6-414A>G
ENST00000680227.1:c.-166A>G	ENSP00000506253.1:n.-166A>G
ENST00000681052.1:c.-47A>G	ENSP00000505060.1:n.-47A>G
ENST00000681092.1:c.-47A>G	ENSP00000506720.1:n.-47A>G
ENST00000681842.1:c.-47A>G	ENSP00000506126.1:n.-47A>G
ENST00000331925.6:c.-47A>G	ENSP00000331514.2:n.-47A>G
ENST00000570382.1:c.-47A>G	ENSP00000466346.1:n.-47A>G
ENST00000571721.5:c.-317A>G	ENSP00000460660.1:n.-317A>G
ENST00000572105.6:c.-47A>G	ENSP00000462823.1:n.-47A>G
ENST00000573283.5:c.-166A>G	ENSP00000458435.1:n.-166A>G
ENST00000575087.5:c.-175A>G	ENSP00000459124.1:n.-175A>G
ENST00000575659.5:c.-6-414A>G	ENSP00000459119.1:n.-6-414A>G
ENST00000575842.5:c.-420A>G	ENSP00000458162.1:n.-420A>G
ENST00000575994.5:c.-6-414A>G	ENSP00000460464.1:n.-6-414A>G
ENST00000576544.5:c.-47A>G	ENSP00000461672.1:n.-47A>G
ENST00000576917.5:n.7A>G
NM_001199954.1:c.-166A>G	NP_001186883.1:n.-166A>G
NM_001614.3:c.-47A>G	NP_001605.1:n.-47A>G
NR_037688.1:n.93A>G
NM_001199954.2:c.-166A>G	NP_001186883.1:n.-166A>G
NM_001614.4:c.-47A>G	NP_001605.1:n.-47A>G
NR_037688.2:n.26A>G
NM_001614.5:c.-47A>G MANE Select	NP_001605.1:n.-47A>G
NR_037688.3:n.26A>G
NM_001199954.3:c.-166A>G	NP_001186883.1:n.-166A>G