Canonical Allele Identifier: CA345145563
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229431770-C-A
MyVariant Identifiers: chr1:g.229567517C>A (hg19) chr1:g.229431770C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431770C>A , CM000663.2:g.229431770C>A GRCh38
NC_000001.10:g.229567517C>A , CM000663.1:g.229567517C>A GRCh37
NC_000001.9:g.227634140C>A NCBI36
NG_006672.1:g.7327G>T , LRG_429:g.7327G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.941G>T ENSP00000355644.4:p.Arg314Leu
ENST00000684723.1:c.806G>T ENSP00000508084.1:p.Arg269Leu
ENST00000366683.3:c.572G>T ENSP00000355644.3:p.Arg191Leu
ENST00000366684.7:c.941G>T MANE Select ENSP00000355645.3:p.Arg314Leu
NM_001100.3:c.941G>T , LRG_429t1:c.941G>T NP_001091.1:p.Arg314Leu
NM_001100.4:c.941G>T MANE Select NP_001091.1:p.Arg314Leu
Search 100 bp 5'
Search 100 bp 3'