Canonical Allele Identifier: CA423754792
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567264G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431517G>T , CM000663.2:g.229431517G>T GRCh38
NC_000001.10:g.229567264G>T , CM000663.1:g.229567264G>T GRCh37
NC_000001.9:g.227633887G>T NCBI36
NG_006672.1:g.7580C>A , LRG_429:g.7580C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1038C>A ENSP00000355644.4:p.Val346=
ENST00000684723.1:c.981C>A ENSP00000508084.1:p.Val327=
ENST00000366683.3:c.747C>A ENSP00000355644.3:p.Val249=
ENST00000366684.7:c.1116C>A MANE Select ENSP00000355645.3:p.Val372=
NM_001100.3:c.1116C>A , LRG_429t1:c.1116C>A NP_001091.1:p.Val372=
NM_001100.4:c.1116C>A MANE Select NP_001091.1:p.Val372=
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