Canonical Allele Identifier: CA10585507

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251902
• ClinVar RCV Id: RCV000238555
• dbSNP Id: rs879254943
• gnomAD v4: 19-11113750-A-T
• MyVariant Identifiers: chr19:g.11224426A>T (hg19) ; chr19:g.11113750A>T (hg38)
• PubMed: PMID:11857755 ; PMID:16389549

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113750A>T , CM000681.2:g.11113750A>T	GRCh38
NC_000019.9:g.11224426A>T , CM000681.1:g.11224426A>T	GRCh37
NC_000019.8:g.11085426A>T	NCBI36
NG_009060.1:g.29370A>T , LRG_274:g.29370A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1832A>T	ENSP00000252444.6:p.Asp611Val
ENST00000559340.2:c.1574A>T	ENSP00000453696.2:p.Asp525Val
ENST00000560467.2:c.1454A>T	ENSP00000453513.2:p.Asp485Val
ENST00000558518.6:c.1574A>T MANE Select	ENSP00000454071.1:p.Asp525Val
ENST00000252444.9:c.1828A>T
ENST00000455727.6:c.1070A>T	ENSP00000397829.2:p.Asp357Val
ENST00000535915.5:c.1451A>T	ENSP00000440520.1:p.Asp484Val
ENST00000545707.5:c.1193A>T	ENSP00000437639.1:p.Asp398Val
ENST00000557933.5:c.1574A>T	ENSP00000453557.1:p.Asp525Val
ENST00000558013.5:c.1574A>T	ENSP00000453346.1:p.Asp525Val
ENST00000558518.5:c.1574A>T	ENSP00000454071.1:p.Asp525Val
ENST00000559340.1:c.295A>T
NM_000527.4:c.1574A>T , LRG_274t1:c.1574A>T	NP_000518.1:p.Asp525Val
NM_001195798.1:c.1574A>T	NP_001182727.1:p.Asp525Val
NM_001195799.1:c.1451A>T	NP_001182728.1:p.Asp484Val
NM_001195800.1:c.1070A>T	NP_001182729.1:p.Asp357Val
NM_001195803.1:c.1193A>T	NP_001182732.1:p.Asp398Val
XM_011528010.1:c.1574A>T	XP_011526312.1:p.Asp525Val
XM_011528011.1:c.1193A>T	XP_011526313.1:p.Asp398Val
XR_244074.2:n.1724A>T
XM_011528010.2:c.1574A>T	XP_011526312.1:p.Asp525Val
XR_001753685.2:n.1691A>T
XR_001753686.2:n.1691A>T
NM_000527.5:c.1574A>T MANE Select	NP_000518.1:p.Asp525Val
NM_001195798.2:c.1574A>T	NP_001182727.1:p.Asp525Val
NM_001195799.2:c.1451A>T	NP_001182728.1:p.Asp484Val
NM_001195800.2:c.1070A>T	NP_001182729.1:p.Asp357Val
NM_001195803.2:c.1193A>T	NP_001182732.1:p.Asp398Val