Canonical Allele Identifier: CA040347

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226393
• ClinVar RCV Id: RCV000211628 ; RCV000497399 ; RCV000587818 ; RCV000844752 ; RCV002453757
• dbSNP Id: rs750518671
• ExAC: 19:11238761 G / A
• gnomAD v2: 19-11238761-G-A
• gnomAD v3: 19-11128085-G-A
• gnomAD v4: 19-11128085-G-A
• MyVariant Identifiers: chr19:g.11238761G>A (hg19) ; chr19:g.11128085G>A (hg38)
• PubMed: PMID:7649549 ; PMID:9763532 ; PMID:11810272 ; PMID:12436241 ; PMID:15199436 ; PMID:15701167 ; PMID:16314194 ; PMID:17765246 ; PMID:18718593 ; PMID:19318025 ; PMID:19446849 ; PMID:20145306 ; PMID:20538126 ; PMID:21310417 ; PMID:22698793 ; PMID:23375686 ; PMID:27816806

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128085G>A , CM000681.2:g.11128085G>A	GRCh38
NC_000019.9:g.11238761G>A , CM000681.1:g.11238761G>A	GRCh37
NC_000019.8:g.11099761G>A	NCBI36
NG_009060.1:g.43705G>A , LRG_274:g.43705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2647G>A	ENSP00000252444.6:p.Val883Met
ENST00000559340.2:c.*458G>A	ENSP00000453696.2:n.*458G>A
ENST00000560467.2:c.2269G>A	ENSP00000453513.2:p.Val757Met
ENST00000558518.6:c.2389G>A MANE Select	ENSP00000454071.1:p.Val797Met
ENST00000252444.9:c.2643G>A
ENST00000455727.6:c.1885G>A	ENSP00000397829.2:p.Val629Met
ENST00000535915.5:c.2266G>A	ENSP00000440520.1:p.Val756Met
ENST00000545707.5:c.1855G>A	ENSP00000437639.1:p.Val619Met
ENST00000557933.5:c.2389G>A	ENSP00000453557.1:p.Ala797Thr
ENST00000558013.5:c.2389G>A	ENSP00000453346.1:p.Val797Met
ENST00000558518.5:c.2389G>A	ENSP00000454071.1:p.Val797Met
ENST00000560628.1:n.108+431G>A
NM_000527.4:c.2389G>A , LRG_274t1:c.2389G>A	NP_000518.1:p.Val797Met
NM_001195798.1:c.2389G>A	NP_001182727.1:p.Val797Met
NM_001195799.1:c.2266G>A	NP_001182728.1:p.Val756Met
NM_001195800.1:c.1885G>A	NP_001182729.1:p.Val629Met
NM_001195803.1:c.1855G>A	NP_001182732.1:p.Val619Met
XM_011528010.1:c.2312-1428G>A	XP_011526312.1:n.2312-1428G>A
XM_011528011.1:c.2008G>A	XP_011526313.1:p.Val670Met
XR_244074.2:n.2399G>A
XM_011528010.2:c.2312-1428G>A	XP_011526312.1:n.2312-1428G>A
XR_001753685.2:n.2723G>A
XR_001753686.2:n.2366G>A
NM_000527.5:c.2389G>A MANE Select	NP_000518.1:p.Val797Met
NM_001195798.2:c.2389G>A	NP_001182727.1:p.Val797Met
NM_001195799.2:c.2266G>A	NP_001182728.1:p.Val756Met
NM_001195800.2:c.1885G>A	NP_001182729.1:p.Val629Met
NM_001195803.2:c.1855G>A	NP_001182732.1:p.Val619Met