Canonical Allele Identifier: CA345146730
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567806T>A (hg19) chr1:g.229432059T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432059T>A , CM000663.2:g.229432059T>A GRCh38
NC_000001.10:g.229567806T>A , CM000663.1:g.229567806T>A GRCh37
NC_000001.9:g.227634429T>A NCBI36
NG_006672.1:g.7038A>T , LRG_429:g.7038A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.743A>T ENSP00000355644.4:p.Gln248Leu
ENST00000684723.1:c.608A>T ENSP00000508084.1:p.Gln203Leu
ENST00000366683.3:c.480-197A>T ENSP00000355644.3:n.480-197A>T
ENST00000366684.7:c.743A>T MANE Select ENSP00000355645.3:p.Gln248Leu
NM_001100.3:c.743A>T , LRG_429t1:c.743A>T NP_001091.1:p.Gln248Leu
NM_001100.4:c.743A>T MANE Select NP_001091.1:p.Gln248Leu
Search 100 bp 5'
Search 100 bp 3'