Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

ClinGen Allele Registry

Canonical Allele Identifier: CA345148324

Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582799

ClinVar RCV Id: RCV003333913

MyVariant Identifiers: chr1:g.229568092C>G (hg19) chr1:g.229432345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432345C>G , CM000663.2:g.229432345C>G	GRCh38
NC_000001.10:g.229568092C>G , CM000663.1:g.229568092C>G	GRCh37
NC_000001.9:g.227634715C>G	NCBI36
NG_006672.1:g.6752G>C , LRG_429:g.6752G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.541G>C	ENSP00000355644.4:p.Asp181His
ENST00000684723.1:c.406G>C	ENSP00000508084.1:p.Asp136His
ENST00000366683.3:c.479+62G>C	ENSP00000355644.3:n.479+62G>C
ENST00000366684.7:c.541G>C MANE Select	ENSP00000355645.3:p.Asp181His
NM_001100.3:c.541G>C , LRG_429t1:c.541G>C	NP_001091.1:p.Asp181His
NM_001100.4:c.541G>C MANE Select	NP_001091.1:p.Asp181His