Canonical Allele Identifier: CA423755377
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568051G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432304G>T , CM000663.2:g.229432304G>T GRCh38
NC_000001.10:g.229568051G>T , CM000663.1:g.229568051G>T GRCh37
NC_000001.9:g.227634674G>T NCBI36
NG_006672.1:g.6793C>A , LRG_429:g.6793C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.582C>A ENSP00000355644.4:p.Ile194=
ENST00000684723.1:c.447C>A ENSP00000508084.1:p.Ile149=
ENST00000366683.3:c.479+103C>A ENSP00000355644.3:n.479+103C>A
ENST00000366684.7:c.582C>A MANE Select ENSP00000355645.3:p.Ile194=
NM_001100.3:c.582C>A , LRG_429t1:c.582C>A NP_001091.1:p.Ile194=
NM_001100.4:c.582C>A MANE Select NP_001091.1:p.Ile194=
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