Canonical Allele Identifier: CA423755068
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432584-C-T
MyVariant Identifiers: chr1:g.229568331C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432584C>T , CM000663.2:g.229432584C>T GRCh38
NC_000001.10:g.229568331C>T , CM000663.1:g.229568331C>T GRCh37
NC_000001.9:g.227634954C>T NCBI36
NG_006672.1:g.6513G>A , LRG_429:g.6513G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.426G>A ENSP00000355644.4:p.Leu142=
ENST00000684723.1:c.291G>A ENSP00000508084.1:p.Leu97=
ENST00000366683.3:c.426G>A ENSP00000355644.3:p.Leu142=
ENST00000366684.7:c.426G>A MANE Select ENSP00000355645.3:p.Leu142=
NM_001100.3:c.426G>A , LRG_429t1:c.426G>A NP_001091.1:p.Leu142=
NM_001100.4:c.426G>A MANE Select NP_001091.1:p.Leu142=
Search 100 bp 5'
Search 100 bp 3'