Canonical Allele Identifier: CA345150092
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348211
ClinVar RCV Id: RCV002050787
dbSNP Id: rs2102736312
gnomAD v4: 1-229432724-G-C
MyVariant Identifiers: chr1:g.229568471G>C (hg19) chr1:g.229432724G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432724G>C , CM000663.2:g.229432724G>C GRCh38
NC_000001.10:g.229568471G>C , CM000663.1:g.229568471G>C GRCh37
NC_000001.9:g.227635094G>C NCBI36
NG_006672.1:g.6373C>G , LRG_429:g.6373C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.286C>G ENSP00000355644.4:p.Leu96Val
ENST00000684723.1:c.151C>G ENSP00000508084.1:p.Leu51Val
ENST00000366683.3:c.286C>G ENSP00000355644.3:p.Leu96Val
ENST00000366684.7:c.286C>G MANE Select ENSP00000355645.3:p.Leu96Val
NM_001100.3:c.286C>G , LRG_429t1:c.286C>G NP_001091.1:p.Leu96Val
NM_001100.4:c.286C>G MANE Select NP_001091.1:p.Leu96Val
Search 100 bp 5'
Search 100 bp 3'