Canonical Allele Identifier: CA345144384
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567297C>G (hg19) chr1:g.229431550C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431550C>G , CM000663.2:g.229431550C>G GRCh38
NC_000001.10:g.229567297C>G , CM000663.1:g.229567297C>G GRCh37
NC_000001.9:g.227633920C>G NCBI36
NG_006672.1:g.7547G>C , LRG_429:g.7547G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1005G>C ENSP00000355644.4:p.Lys335Asn
ENST00000684723.1:c.948G>C ENSP00000508084.1:p.Lys316Asn
ENST00000366683.3:c.714G>C ENSP00000355644.3:p.Lys238Asn
ENST00000366684.7:c.1083G>C MANE Select ENSP00000355645.3:p.Lys361Asn
NM_001100.3:c.1083G>C , LRG_429t1:c.1083G>C NP_001091.1:p.Lys361Asn
NM_001100.4:c.1083G>C MANE Select NP_001091.1:p.Lys361Asn
Search 100 bp 5'
Search 100 bp 3'