Canonical Allele Identifier: CA023717

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183089
• ClinVar RCV Id: RCV000161959 ; RCV000237262 ; RCV001181335 ; RCV002345556
• dbSNP Id: rs557344672
• ExAC: 19:11216124 C / G
• gnomAD v2: 19-11216124-C-G
• gnomAD v3: 19-11105448-C-G
• gnomAD v4: 19-11105448-C-G
• MyVariant Identifiers: chr19:g.11216124C>G (hg19) ; chr19:g.11105448C>G (hg38)
• PubMed: PMID:11600564 ; PMID:11754108 ; PMID:14508510 ; PMID:16250003 ; PMID:16627557 ; PMID:18279815 ; PMID:20045108 ; PMID:21310417 ; PMID:21868016 ; PMID:22698793 ; PMID:23375686 ; PMID:25647241

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105448C>G , CM000681.2:g.11105448C>G	GRCh38
NC_000019.9:g.11216124C>G , CM000681.1:g.11216124C>G	GRCh37
NC_000019.8:g.11077124C>G	NCBI36
NG_009060.1:g.21068C>G , LRG_274:g.21068C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.800C>G	ENSP00000252444.6:p.Pro267Arg
ENST00000559340.2:c.542C>G	ENSP00000453696.2:p.Pro181Arg
ENST00000560467.2:c.542C>G	ENSP00000453513.2:p.Pro181Arg
ENST00000558518.6:c.542C>G MANE Select	ENSP00000454071.1:p.Pro181Arg
ENST00000252444.9:c.796C>G
ENST00000455727.6:c.314-1944C>G	ENSP00000397829.2:n.314-1944C>G
ENST00000535915.5:c.419C>G	ENSP00000440520.1:p.Pro140Arg
ENST00000545707.5:c.314-1117C>G	ENSP00000437639.1:n.314-1117C>G
ENST00000557933.5:c.542C>G	ENSP00000453557.1:p.Pro181Arg
ENST00000558013.5:c.542C>G	ENSP00000453346.1:p.Pro181Arg
ENST00000558518.5:c.542C>G	ENSP00000454071.1:p.Pro181Arg
ENST00000560467.1:c.142C>G
NM_000527.4:c.542C>G , LRG_274t1:c.542C>G	NP_000518.1:p.Pro181Arg
NM_001195798.1:c.542C>G	NP_001182727.1:p.Pro181Arg
NM_001195799.1:c.419C>G	NP_001182728.1:p.Pro140Arg
NM_001195800.1:c.314-1944C>G	NP_001182729.1:n.314-1944C>G
NM_001195803.1:c.314-1117C>G	NP_001182732.1:n.314-1117C>G
XM_011528010.1:c.542C>G	XP_011526312.1:p.Pro181Arg
XM_011528011.1:c.314-1117C>G	XP_011526313.1:n.314-1117C>G
XR_244074.2:n.692C>G
XM_011528010.2:c.542C>G	XP_011526312.1:p.Pro181Arg
XR_001753685.2:n.659C>G
XR_001753686.2:n.659C>G
NM_000527.5:c.542C>G MANE Select	NP_000518.1:p.Pro181Arg
NM_001195798.2:c.542C>G	NP_001182727.1:p.Pro181Arg
NM_001195799.2:c.419C>G	NP_001182728.1:p.Pro140Arg
NM_001195800.2:c.314-1944C>G	NP_001182729.1:n.314-1944C>G
NM_001195803.2:c.314-1117C>G	NP_001182732.1:n.314-1117C>G