Canonical Allele Identifier: CA2841097836
Gene: ACTA1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432316dup , CM000663.2:g.229432316dup GRCh38
NC_000001.10:g.229568063dup , CM000663.1:g.229568063dup GRCh37
NC_000001.9:g.227634686dup NCBI36
NG_006672.1:g.6782dup , LRG_429:g.6782dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.571dup ENSP00000355644.4:p.Leu191ProfsTer7
ENST00000684723.1:c.436dup ENSP00000508084.1:p.Leu146ProfsTer7
ENST00000366683.3:c.479+92dup ENSP00000355644.3:n.479+92dup
ENST00000366684.7:c.571dup MANE Select ENSP00000355645.3:p.Leu191ProfsTer7
NM_001100.3:c.571dup , LRG_429t1:c.571dup NP_001091.1:p.Leu191ProfsTer7
NM_001100.4:c.571dup MANE Select NP_001091.1:p.Leu191ProfsTer7
Search 100 bp 5'
Search 100 bp 3'