Canonical Allele Identifier: CA023653

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183133
• ClinVar RCV Id: RCV000162012 ; RCV000237615 ; RCV001178125
• dbSNP Id: rs150104358
• ExAC: 19:11233951 G / A
• gnomAD v2: 19-11233951-G-A
• gnomAD v3: 19-11123275-G-A
• gnomAD v4: 19-11123275-G-A
• MyVariant Identifiers: chr19:g.11233951G>A (hg19) ; chr19:g.11123275G>A (hg38)
• PubMed: PMID:22881376 ; PMID:25647241 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123275G>A , CM000681.2:g.11123275G>A	GRCh38
NC_000019.9:g.11233951G>A , CM000681.1:g.11233951G>A	GRCh37
NC_000019.8:g.11094951G>A	NCBI36
NG_009060.1:g.38895G>A , LRG_274:g.38895G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2500G>A	ENSP00000252444.6:p.Asp834Asn
ENST00000559340.2:c.*311G>A	ENSP00000453696.2:n.*311G>A
ENST00000560467.2:c.2122G>A	ENSP00000453513.2:p.Asp708Asn
ENST00000558518.6:c.2242G>A MANE Select	ENSP00000454071.1:p.Asp748Asn
ENST00000252444.9:c.2496G>A
ENST00000455727.6:c.1738G>A	ENSP00000397829.2:p.Asp580Asn
ENST00000535915.5:c.2119G>A	ENSP00000440520.1:p.Asp707Asn
ENST00000545707.5:c.1708G>A	ENSP00000437639.1:p.Asp570Asn
ENST00000557933.5:c.2242G>A	ENSP00000453557.1:p.Asp748Asn
ENST00000558013.5:c.2242G>A	ENSP00000453346.1:p.Asp748Asn
ENST00000558518.5:c.2242G>A	ENSP00000454071.1:p.Asp748Asn
NM_000527.4:c.2242G>A , LRG_274t1:c.2242G>A	NP_000518.1:p.Asp748Asn
NM_001195798.1:c.2242G>A	NP_001182727.1:p.Asp748Asn
NM_001195799.1:c.2119G>A	NP_001182728.1:p.Asp707Asn
NM_001195800.1:c.1738G>A	NP_001182729.1:p.Asp580Asn
NM_001195803.1:c.1708G>A	NP_001182732.1:p.Asp570Asn
XM_011528010.1:c.2242G>A	XP_011526312.1:p.Asp748Asn
XM_011528011.1:c.1861G>A	XP_011526313.1:p.Asp621Asn
XR_244074.2:n.2252G>A
XM_011528010.2:c.2242G>A	XP_011526312.1:p.Asp748Asn
XR_001753685.2:n.2576G>A
XR_001753686.2:n.2219G>A
NM_000527.5:c.2242G>A MANE Select	NP_000518.1:p.Asp748Asn
NM_001195798.2:c.2242G>A	NP_001182727.1:p.Asp748Asn
NM_001195799.2:c.2119G>A	NP_001182728.1:p.Asp707Asn
NM_001195800.2:c.1738G>A	NP_001182729.1:p.Asp580Asn
NM_001195803.2:c.1708G>A	NP_001182732.1:p.Asp570Asn