Canonical Allele Identifier: CA423754804
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567273A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431526A>T , CM000663.2:g.229431526A>T GRCh38
NC_000001.10:g.229567273A>T , CM000663.1:g.229567273A>T GRCh37
NC_000001.9:g.227633896A>T NCBI36
NG_006672.1:g.7571T>A , LRG_429:g.7571T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1029T>A ENSP00000355644.4:p.Pro343=
ENST00000684723.1:c.972T>A ENSP00000508084.1:p.Pro324=
ENST00000366683.3:c.738T>A ENSP00000355644.3:p.Pro246=
ENST00000366684.7:c.1107T>A MANE Select ENSP00000355645.3:p.Pro369=
NM_001100.3:c.1107T>A , LRG_429t1:c.1107T>A NP_001091.1:p.Pro369=
NM_001100.4:c.1107T>A MANE Select NP_001091.1:p.Pro369=
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