Canonical Allele Identifier: CA345148777
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432405-C-G
MyVariant Identifiers: chr1:g.229568152C>G (hg19) chr1:g.229432405C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432405C>G , CM000663.2:g.229432405C>G GRCh38
NC_000001.10:g.229568152C>G , CM000663.1:g.229568152C>G GRCh37
NC_000001.9:g.227634775C>G NCBI36
NG_006672.1:g.6692G>C , LRG_429:g.6692G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.481G>C ENSP00000355644.4:p.Val161Leu
ENST00000684723.1:c.346G>C ENSP00000508084.1:p.Val116Leu
ENST00000366683.3:c.479+2G>C ENSP00000355644.3:n.479+2G>C
ENST00000366684.7:c.481G>C MANE Select ENSP00000355645.3:p.Val161Leu
NM_001100.3:c.481G>C , LRG_429t1:c.481G>C NP_001091.1:p.Val161Leu
NM_001100.4:c.481G>C MANE Select NP_001091.1:p.Val161Leu
Search 100 bp 5'
Search 100 bp 3'