Canonical Allele Identifier: CA345144059
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567251A>C (hg19) chr1:g.229431504A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431504A>C , CM000663.2:g.229431504A>C GRCh38
NC_000001.10:g.229567251A>C , CM000663.1:g.229567251A>C GRCh37
NC_000001.9:g.227633874A>C NCBI36
NG_006672.1:g.7593T>G , LRG_429:g.7593T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1051T>G ENSP00000355644.4:p.Phe351Val
ENST00000684723.1:c.994T>G ENSP00000508084.1:p.Phe332Val
ENST00000366683.3:c.760T>G ENSP00000355644.3:p.Phe254Val
ENST00000366684.7:c.1129T>G MANE Select ENSP00000355645.3:p.Phe377Val
NM_001100.3:c.1129T>G , LRG_429t1:c.1129T>G NP_001091.1:p.Phe377Val
NM_001100.4:c.1129T>G MANE Select NP_001091.1:p.Phe377Val
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