Canonical Allele Identifier: CA16607535

Gene: ACTG1

Linked Data

• ClinVar Variation Id: 382760
• ClinVar RCV Id: RCV000429999
• dbSNP Id: rs567737230
• gnomAD v2: 17-79479801-G-T
• gnomAD v3: 17-81512775-G-T
• gnomAD v4: 17-81512775-G-T
• MyVariant Identifiers: chr17:g.79479801G>T (hg19) ; chr17:g.81512775G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512775G>T , CM000679.2:g.81512775G>T	GRCh38
NC_000017.10:g.79479801G>T , CM000679.1:g.79479801G>T	GRCh37
NC_000017.9:g.77094396G>T	NCBI36
NG_011433.1:g.5027C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.-167C>A	ENSP00000466346.2:n.-167C>A
ENST00000571691.6:c.-48C>A	ENSP00000461407.2:n.-48C>A
ENST00000571721.6:c.-318C>A	ENSP00000460660.2:n.-318C>A
ENST00000572105.7:c.-48C>A	ENSP00000462823.1:n.-48C>A
ENST00000573283.7:c.-48C>A MANE Select	ENSP00000458435.1:n.-48C>A
ENST00000574671.6:n.77C>A
ENST00000575659.6:c.-6-415C>A	ENSP00000459119.2:n.-6-415C>A
ENST00000575994.6:c.-6-415C>A	ENSP00000460464.2:n.-6-415C>A
ENST00000576214.3:n.77C>A
ENST00000576544.6:c.-48C>A	ENSP00000461672.1:n.-48C>A
ENST00000615544.5:c.-6-415C>A	ENSP00000477968.1:n.-6-415C>A
ENST00000679410.1:n.77C>A
ENST00000679535.1:n.77C>A
ENST00000679778.1:c.-6-415C>A	ENSP00000505235.1:n.-6-415C>A
ENST00000680227.1:c.-167C>A	ENSP00000506253.1:n.-167C>A
ENST00000681052.1:c.-48C>A	ENSP00000505060.1:n.-48C>A
ENST00000681092.1:c.-48C>A	ENSP00000506720.1:n.-48C>A
ENST00000681842.1:c.-48C>A	ENSP00000506126.1:n.-48C>A
ENST00000331925.6:c.-48C>A	ENSP00000331514.2:n.-48C>A
ENST00000570382.1:c.-48C>A	ENSP00000466346.1:n.-48C>A
ENST00000571721.5:c.-318C>A	ENSP00000460660.1:n.-318C>A
ENST00000572105.6:c.-48C>A	ENSP00000462823.1:n.-48C>A
ENST00000573283.5:c.-167C>A	ENSP00000458435.1:n.-167C>A
ENST00000575087.5:c.-176C>A	ENSP00000459124.1:n.-176C>A
ENST00000575659.5:c.-6-415C>A	ENSP00000459119.1:n.-6-415C>A
ENST00000575842.5:c.-421C>A	ENSP00000458162.1:n.-421C>A
ENST00000575994.5:c.-6-415C>A	ENSP00000460464.1:n.-6-415C>A
ENST00000576544.5:c.-48C>A	ENSP00000461672.1:n.-48C>A
ENST00000576917.5:n.6C>A
NM_001199954.1:c.-167C>A	NP_001186883.1:n.-167C>A
NM_001614.3:c.-48C>A	NP_001605.1:n.-48C>A
NR_037688.1:n.92C>A
NM_001199954.2:c.-167C>A	NP_001186883.1:n.-167C>A
NM_001614.4:c.-48C>A	NP_001605.1:n.-48C>A
NR_037688.2:n.25C>A
NM_001614.5:c.-48C>A MANE Select	NP_001605.1:n.-48C>A
NR_037688.3:n.25C>A
NM_001199954.3:c.-167C>A	NP_001186883.1:n.-167C>A