Canonical Allele Identifier: CA10603415
Gene: ACTG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280578
ClinVar RCV Id: RCV000293975
dbSNP Id: rs886041756
MyVariant Identifiers: chr17:g.79478074T>C (hg19) chr17:g.81511048T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81511048T>C , CM000679.2:g.81511048T>C GRCh38
NC_000017.10:g.79478074T>C , CM000679.1:g.79478074T>C GRCh37
NC_000017.9:g.77092669T>C NCBI36
NG_011433.1:g.6754A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000570382.2:c.863A>G ENSP00000466346.2:p.Asp288Gly
ENST00000571691.6:c.791A>G ENSP00000461407.2:p.Asp264Gly
ENST00000571721.6:c.863A>G ENSP00000460660.2:p.Asp288Gly
ENST00000572105.7:c.*307A>G ENSP00000462823.1:n.*307A>G
ENST00000573283.7:c.863A>G MANE Select ENSP00000458435.1:p.Asp288Gly
ENST00000574671.6:n.1263A>G
ENST00000575659.6:c.863A>G ENSP00000459119.2:p.Asp288Gly
ENST00000575994.6:c.863A>G ENSP00000460464.2:p.Asp288Gly
ENST00000576214.3:n.1164A>G
ENST00000576544.6:c.863A>G ENSP00000461672.1:p.Asp288Gly
ENST00000615544.5:c.863A>G ENSP00000477968.1:p.Asp288Gly
ENST00000644774.2:c.836A>G ENSP00000493648.2:p.Asp279Gly
ENST00000679410.1:n.1066A>G
ENST00000679480.1:c.863A>G ENSP00000506201.1:p.Asp288Gly
ENST00000679535.1:n.1164A>G
ENST00000679778.1:c.863A>G ENSP00000505235.1:p.Asp288Gly
ENST00000680227.1:c.863A>G ENSP00000506253.1:p.Asp288Gly
ENST00000680727.1:c.863A>G ENSP00000505193.1:p.Asp288Gly
ENST00000681052.1:c.863A>G ENSP00000505060.1:p.Asp288Gly
ENST00000681092.1:c.*667A>G ENSP00000506720.1:n.*667A>G
ENST00000681842.1:c.863A>G ENSP00000506126.1:p.Asp288Gly
ENST00000331925.6:c.863A>G ENSP00000331514.2:p.Asp288Gly
ENST00000572105.6:c.*307A>G ENSP00000462823.1:n.*307A>G
ENST00000573283.5:c.863A>G ENSP00000458435.1:p.Asp288Gly
ENST00000574671.5:n.722A>G
ENST00000575087.5:c.863A>G ENSP00000459124.1:p.Asp288Gly
ENST00000575842.5:c.863A>G ENSP00000458162.1:p.Asp288Gly
ENST00000576209.5:n.748A>G
ENST00000576544.5:c.863A>G ENSP00000461672.1:p.Asp288Gly
ENST00000576917.5:n.995A>G
ENST00000615544.4:c.863A>G ENSP00000477968.1:p.Asp288Gly
NM_001199954.1:c.863A>G NP_001186883.1:p.Asp288Gly
NM_001614.3:c.863A>G NP_001605.1:p.Asp288Gly
NR_037688.1:n.1002A>G
NM_001199954.2:c.863A>G NP_001186883.1:p.Asp288Gly
NM_001614.4:c.863A>G NP_001605.1:p.Asp288Gly
NR_037688.2:n.935A>G
NM_001614.5:c.863A>G MANE Select NP_001605.1:p.Asp288Gly
NR_037688.3:n.935A>G
NM_001199954.3:c.863A>G NP_001186883.1:p.Asp288Gly
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