Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA645509250

Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 440533

ClinVar RCV Id: RCV000508948

dbSNP Id: rs1555800631

MyVariant Identifiers: chr19:g.11200074C>G (hg19) chr19:g.11089398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089398C>G , CM000681.2:g.11089398C>G	GRCh38
NC_000019.9:g.11200074C>G , CM000681.1:g.11200074C>G	GRCh37
NC_000019.8:g.11061074C>G	NCBI36
NG_009060.1:g.5018C>G , LRG_274:g.5018C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558518.5:c.-151C>G (LDLR)	ENSP00000454071.1:n.-151C>G
NM_000527.4:c.-151C>G , LRG_274t1:c.-151C>G (LDLR)	NP_000518.1:n.-151C>G
NM_001195798.1:c.-151C>G (LDLR)	NP_001182727.1:n.-151C>G
NM_001195799.1:c.-151C>G (LDLR)	NP_001182728.1:n.-151C>G
NM_001195800.1:c.-151C>G (LDLR)	NP_001182729.1:n.-151C>G
NM_001195803.1:c.-151C>G (LDLR)	NP_001182732.1:n.-151C>G
XM_011528011.1:c.-151C>G (LDLR)	XP_011526313.1:n.-151C>G
NR_163945.1:n.262G>C (LDLR-AS1)