Canonical Allele Identifier: CA423754990
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs369670582
MyVariant Identifiers: chr1:g.229568087C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432340C>A , CM000663.2:g.229432340C>A GRCh38
NC_000001.10:g.229568087C>A , CM000663.1:g.229568087C>A GRCh37
NC_000001.9:g.227634710C>A NCBI36
NG_006672.1:g.6757G>T , LRG_429:g.6757G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.546G>T ENSP00000355644.4:p.Leu182=
ENST00000684723.1:c.411G>T ENSP00000508084.1:p.Leu137=
ENST00000366683.3:c.479+67G>T ENSP00000355644.3:n.479+67G>T
ENST00000366684.7:c.546G>T MANE Select ENSP00000355645.3:p.Leu182=
NM_001100.3:c.546G>T , LRG_429t1:c.546G>T NP_001091.1:p.Leu182=
NM_001100.4:c.546G>T MANE Select NP_001091.1:p.Leu182=
Search 100 bp 5'
Search 100 bp 3'