Canonical Allele Identifier: CA10576301

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226350
• ClinVar RCV Id: RCV000211653 ; RCV001249013 ; RCV002336590
• dbSNP Id: rs875989918
• gnomAD v4: 19-11113287-C-A
• MyVariant Identifiers: chr19:g.11223963C>A (hg19) ; chr19:g.11113287C>A (hg38)
• PubMed: PMID:9259195 ; PMID:11810272

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113287C>A , CM000681.2:g.11113287C>A	GRCh38
NC_000019.9:g.11223963C>A , CM000681.1:g.11223963C>A	GRCh37
NC_000019.8:g.11084963C>A	NCBI36
NG_009060.1:g.28907C>A , LRG_274:g.28907C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1454C>A	ENSP00000252444.6:p.Ala485Asp
ENST00000559340.2:c.1196C>A	ENSP00000453696.2:p.Ala399Asp
ENST00000560467.2:c.1076C>A	ENSP00000453513.2:p.Ala359Asp
ENST00000558518.6:c.1196C>A MANE Select	ENSP00000454071.1:p.Ala399Asp
ENST00000252444.9:c.1450C>A
ENST00000455727.6:c.692C>A	ENSP00000397829.2:p.Ala231Asp
ENST00000535915.5:c.1073C>A	ENSP00000440520.1:p.Ala358Asp
ENST00000545707.5:c.815C>A	ENSP00000437639.1:p.Ala272Asp
ENST00000557933.5:c.1196C>A	ENSP00000453557.1:p.Ala399Asp
ENST00000558013.5:c.1196C>A	ENSP00000453346.1:p.Ala399Asp
ENST00000558518.5:c.1196C>A	ENSP00000454071.1:p.Ala399Asp
ENST00000560173.1:n.195C>A
ENST00000560467.1:c.676C>A
NM_000527.4:c.1196C>A , LRG_274t1:c.1196C>A	NP_000518.1:p.Ala399Asp
NM_001195798.1:c.1196C>A	NP_001182727.1:p.Ala399Asp
NM_001195799.1:c.1073C>A	NP_001182728.1:p.Ala358Asp
NM_001195800.1:c.692C>A	NP_001182729.1:p.Ala231Asp
NM_001195803.1:c.815C>A	NP_001182732.1:p.Ala272Asp
XM_011528010.1:c.1196C>A	XP_011526312.1:p.Ala399Asp
XM_011528011.1:c.815C>A	XP_011526313.1:p.Ala272Asp
XR_244074.2:n.1346C>A
XM_011528010.2:c.1196C>A	XP_011526312.1:p.Ala399Asp
XR_001753685.2:n.1313C>A
XR_001753686.2:n.1313C>A
NM_000527.5:c.1196C>A MANE Select	NP_000518.1:p.Ala399Asp
NM_001195798.2:c.1196C>A	NP_001182727.1:p.Ala399Asp
NM_001195799.2:c.1073C>A	NP_001182728.1:p.Ala358Asp
NM_001195800.2:c.692C>A	NP_001182729.1:p.Ala231Asp
NM_001195803.2:c.815C>A	NP_001182732.1:p.Ala272Asp