Canonical Allele Identifier: CA258164
Gene: ACTG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18320
ClinVar RCV Id: RCV000019985
dbSNP Id: rs104894547
MyVariant Identifiers: chr17:g.79477735A>G (hg19) chr17:g.81510709A>G (hg38)
PubMed: PMID:5654493 PMID:16773128
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81510709A>G , CM000679.2:g.81510709A>G GRCh38
NC_000017.10:g.79477735A>G , CM000679.1:g.79477735A>G GRCh37
NC_000017.9:g.77092330A>G NCBI36
NG_011433.1:g.7093T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000570382.2:c.1109T>C ENSP00000466346.2:p.Val370Ala
ENST00000571691.6:c.1037T>C ENSP00000461407.2:p.Val346Ala
ENST00000571721.6:c.1109T>C ENSP00000460660.2:p.Val370Ala
ENST00000572105.7:c.*553T>C ENSP00000462823.1:n.*553T>C
ENST00000573283.7:c.1109T>C MANE Select ENSP00000458435.1:p.Val370Ala
ENST00000574671.6:n.1509T>C
ENST00000575659.6:c.1109T>C ENSP00000459119.2:p.Val370Ala
ENST00000575994.6:c.1109T>C ENSP00000460464.2:p.Val370Ala
ENST00000576214.3:n.1410T>C
ENST00000576544.6:c.1109T>C ENSP00000461672.1:p.Val370Ala
ENST00000615544.5:c.1109T>C ENSP00000477968.1:p.Val370Ala
ENST00000644774.2:c.1082T>C ENSP00000493648.2:p.Val361Ala
ENST00000679410.1:n.1312T>C
ENST00000679480.1:c.1109T>C ENSP00000506201.1:p.Val370Ala
ENST00000679535.1:n.1410T>C
ENST00000679778.1:c.1109T>C ENSP00000505235.1:p.Val370Ala
ENST00000680227.1:c.1109T>C ENSP00000506253.1:p.Val370Ala
ENST00000680727.1:c.1109T>C ENSP00000505193.1:p.Val370Ala
ENST00000681052.1:c.1109T>C ENSP00000505060.1:p.Val370Ala
ENST00000681092.1:c.*913T>C ENSP00000506720.1:n.*913T>C
ENST00000681842.1:c.1109T>C ENSP00000506126.1:p.Val370Ala
ENST00000331925.6:c.1109T>C ENSP00000331514.2:p.Val370Ala
ENST00000573283.5:c.1109T>C ENSP00000458435.1:p.Val370Ala
ENST00000574671.5:n.968T>C
ENST00000575087.5:c.1109T>C ENSP00000459124.1:p.Val370Ala
ENST00000575842.5:c.1109T>C ENSP00000458162.1:p.Val370Ala
ENST00000576209.5:n.994T>C
ENST00000576544.5:c.1109T>C ENSP00000461672.1:p.Val370Ala
ENST00000576917.5:n.1241T>C
ENST00000615544.4:c.1109T>C ENSP00000477968.1:p.Val370Ala
NM_001199954.1:c.1109T>C NP_001186883.1:p.Val370Ala
NM_001614.3:c.1109T>C NP_001605.1:p.Val370Ala
NR_037688.1:n.1248T>C
NM_001199954.2:c.1109T>C NP_001186883.1:p.Val370Ala
NM_001614.4:c.1109T>C NP_001605.1:p.Val370Ala
NR_037688.2:n.1181T>C
NM_001614.5:c.1109T>C MANE Select NP_001605.1:p.Val370Ala
NR_037688.3:n.1181T>C
NM_001199954.3:c.1109T>C NP_001186883.1:p.Val370Ala
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