Canonical Allele Identifier: CA345144607
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567328A>T (hg19) chr1:g.229431581A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431581A>T , CM000663.2:g.229431581A>T GRCh38
NC_000001.10:g.229567328A>T , CM000663.1:g.229567328A>T GRCh37
NC_000001.9:g.227633951A>T NCBI36
NG_006672.1:g.7516T>A , LRG_429:g.7516T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-17T>A ENSP00000355644.4:n.991-17T>A
ENST00000684723.1:c.917T>A ENSP00000508084.1:p.Leu306Gln
ENST00000366683.3:c.683T>A ENSP00000355644.3:p.Leu228Gln
ENST00000366684.7:c.1052T>A MANE Select ENSP00000355645.3:p.Leu351Gln
NM_001100.3:c.1052T>A , LRG_429t1:c.1052T>A NP_001091.1:p.Leu351Gln
NM_001100.4:c.1052T>A MANE Select NP_001091.1:p.Leu351Gln
Search 100 bp 5'
Search 100 bp 3'