Canonical Allele Identifier: CA345146919
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567836A>T (hg19) chr1:g.229432089A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432089A>T , CM000663.2:g.229432089A>T GRCh38
NC_000001.10:g.229567836A>T , CM000663.1:g.229567836A>T GRCh37
NC_000001.9:g.227634459A>T NCBI36
NG_006672.1:g.7008T>A , LRG_429:g.7008T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.713T>A ENSP00000355644.4:p.Leu238Gln
ENST00000684723.1:c.578T>A ENSP00000508084.1:p.Leu193Gln
ENST00000366683.3:c.480-227T>A ENSP00000355644.3:n.480-227T>A
ENST00000366684.7:c.713T>A MANE Select ENSP00000355645.3:p.Leu238Gln
NM_001100.3:c.713T>A , LRG_429t1:c.713T>A NP_001091.1:p.Leu238Gln
NM_001100.4:c.713T>A MANE Select NP_001091.1:p.Leu238Gln
Search 100 bp 5'
Search 100 bp 3'