Canonical Allele Identifier: CA1142120498
Gene: ACTA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432676G= , CM000663.2:g.229432676G= GRCh38
NC_000001.10:g.229568423G= , CM000663.1:g.229568423G= GRCh37
NC_000001.9:g.227635046G= NCBI36
NG_006672.1:g.6421C= , LRG_429:g.6421C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.334C= ENSP00000355644.4:p.Leu112=
ENST00000684723.1:c.199C= ENSP00000508084.1:p.Leu67=
ENST00000366683.3:c.334C= ENSP00000355644.3:p.Leu112=
ENST00000366684.7:c.334C= MANE Select ENSP00000355645.3:p.Leu112=
NM_001100.3:c.334C= , LRG_429t1:c.334C= NP_001091.1:p.Leu112=
NM_001100.4:c.334C= MANE Select NP_001091.1:p.Leu112=
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