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: CA345146681

Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2043450

ClinVar RCV Id: RCV002913006

MyVariant Identifiers: chr1:g.229567798T>A (hg19) chr1:g.229432051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432051T>A , CM000663.2:g.229432051T>A	GRCh38
NC_000001.10:g.229567798T>A , CM000663.1:g.229567798T>A	GRCh37
NC_000001.9:g.227634421T>A	NCBI36
NG_006672.1:g.7046A>T , LRG_429:g.7046A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.751A>T	ENSP00000355644.4:p.Thr251Ser
ENST00000684723.1:c.616A>T	ENSP00000508084.1:p.Thr206Ser
ENST00000366683.3:c.480-189A>T	ENSP00000355644.3:n.480-189A>T
ENST00000366684.7:c.751A>T MANE Select	ENSP00000355645.3:p.Thr251Ser
NM_001100.3:c.751A>T , LRG_429t1:c.751A>T	NP_001091.1:p.Thr251Ser
NM_001100.4:c.751A>T MANE Select	NP_001091.1:p.Thr251Ser