Canonical Allele Identifier: CA345147319
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567905T>G (hg19) chr1:g.229432158T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432158T>G , CM000663.2:g.229432158T>G GRCh38
NC_000001.10:g.229567905T>G , CM000663.1:g.229567905T>G GRCh37
NC_000001.9:g.227634528T>G NCBI36
NG_006672.1:g.6939A>C , LRG_429:g.6939A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.644A>C ENSP00000355644.4:p.Lys215Thr
ENST00000684723.1:c.509A>C ENSP00000508084.1:p.Lys170Thr
ENST00000366683.3:c.479+249A>C ENSP00000355644.3:n.479+249A>C
ENST00000366684.7:c.644A>C MANE Select ENSP00000355645.3:p.Lys215Thr
NM_001100.3:c.644A>C , LRG_429t1:c.644A>C NP_001091.1:p.Lys215Thr
NM_001100.4:c.644A>C MANE Select NP_001091.1:p.Lys215Thr
Search 100 bp 5'
Search 100 bp 3'