Canonical Allele Identifier: CA423754871
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1470011143
MyVariant Identifiers: chr1:g.229567575G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431828G>A , CM000663.2:g.229431828G>A GRCh38
NC_000001.10:g.229567575G>A , CM000663.1:g.229567575G>A GRCh37
NC_000001.9:g.227634198G>A NCBI36
NG_006672.1:g.7269C>T , LRG_429:g.7269C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.883C>T ENSP00000355644.4:p.Leu295=
ENST00000684723.1:c.748C>T ENSP00000508084.1:p.Leu250=
ENST00000366683.3:c.514C>T ENSP00000355644.3:p.Leu172=
ENST00000366684.7:c.883C>T MANE Select ENSP00000355645.3:p.Leu295=
NM_001100.3:c.883C>T , LRG_429t1:c.883C>T NP_001091.1:p.Leu295=
NM_001100.4:c.883C>T MANE Select NP_001091.1:p.Leu295=
Search 100 bp 5'
Search 100 bp 3'