Canonical Allele Identifier: CA1226125467
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431730C= , CM000663.2:g.229431730C= GRCh38
NC_000001.10:g.229567477C= , CM000663.1:g.229567477C= GRCh37
NC_000001.9:g.227634100C= NCBI36
NG_006672.1:g.7367G= , LRG_429:g.7367G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.981G= ENSP00000355644.4:p.Met327=
ENST00000684723.1:c.846G= ENSP00000508084.1:p.Met282=
ENST00000366683.3:c.612G= ENSP00000355644.3:p.Met204=
ENST00000366684.7:c.981G= MANE Select ENSP00000355645.3:p.Met327=
NM_001100.3:c.981G= , LRG_429t1:c.981G= NP_001091.1:p.Met327=
NM_001100.4:c.981G= MANE Select NP_001091.1:p.Met327=