Canonical Allele Identifier: CA10585245

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251592
• ClinVar RCV Id: RCV000238172 ; RCV000816844 ; RCV001549448
• dbSNP Id: rs879254753
• gnomAD v4: 19-11110723-T-A
• MyVariant Identifiers: chr19:g.11221399T>A (hg19) ; chr19:g.11110723T>A (hg38)
• PubMed: PMID:7583548 ; PMID:15241806 ; PMID:18718593

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110723T>A , CM000681.2:g.11110723T>A	GRCh38
NC_000019.9:g.11221399T>A , CM000681.1:g.11221399T>A	GRCh37
NC_000019.8:g.11082399T>A	NCBI36
NG_009060.1:g.26343T>A , LRG_274:g.26343T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1270T>A	ENSP00000252444.6:p.Cys424Ser
ENST00000559340.2:c.1012T>A	ENSP00000453696.2:p.Cys338Ser
ENST00000560467.2:c.941-791T>A	ENSP00000453513.2:n.941-791T>A
ENST00000558518.6:c.1012T>A MANE Select	ENSP00000454071.1:p.Cys338Ser
ENST00000252444.9:c.1266T>A
ENST00000455727.6:c.508T>A	ENSP00000397829.2:p.Cys170Ser
ENST00000535915.5:c.889T>A	ENSP00000440520.1:p.Cys297Ser
ENST00000545707.5:c.631T>A	ENSP00000437639.1:p.Cys211Ser
ENST00000557933.5:c.1012T>A	ENSP00000453557.1:p.Cys338Ser
ENST00000558013.5:c.1012T>A	ENSP00000453346.1:p.Cys338Ser
ENST00000558518.5:c.1012T>A	ENSP00000454071.1:p.Cys338Ser
ENST00000560173.1:n.11T>A
ENST00000560467.1:c.541-791T>A
NM_000527.4:c.1012T>A , LRG_274t1:c.1012T>A	NP_000518.1:p.Cys338Ser
NM_001195798.1:c.1012T>A	NP_001182727.1:p.Cys338Ser
NM_001195799.1:c.889T>A	NP_001182728.1:p.Cys297Ser
NM_001195800.1:c.508T>A	NP_001182729.1:p.Cys170Ser
NM_001195803.1:c.631T>A	NP_001182732.1:p.Cys211Ser
XM_011528010.1:c.1012T>A	XP_011526312.1:p.Cys338Ser
XM_011528011.1:c.631T>A	XP_011526313.1:p.Cys211Ser
XR_244074.2:n.1162T>A
XM_011528010.2:c.1012T>A	XP_011526312.1:p.Cys338Ser
XR_001753685.2:n.1129T>A
XR_001753686.2:n.1129T>A
NM_000527.5:c.1012T>A MANE Select	NP_000518.1:p.Cys338Ser
NM_001195798.2:c.1012T>A	NP_001182727.1:p.Cys338Ser
NM_001195799.2:c.889T>A	NP_001182728.1:p.Cys297Ser
NM_001195800.2:c.508T>A	NP_001182729.1:p.Cys170Ser
NM_001195803.2:c.631T>A	NP_001182732.1:p.Cys211Ser