Canonical Allele Identifier: CA023687
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161266
ClinVar RCV Id: RCV000162016 RCV000211583 RCV000775032 RCV000844744 RCV002051659 RCV002433637
dbSNP Id: rs144172724
ExAC: 19:11213450 G / A
gnomAD v2: 19-11213450-G-A
gnomAD v3: 19-11102774-G-A
gnomAD v4: 19-11102774-G-A
MyVariant Identifiers: chr19:g.11213450G>A (hg19) chr19:g.11102774G>A (hg38)
ERepo: CA023687/MONDO:0007750/013
PubMed: PMID:1301940 PMID:1301956 PMID:1352322 PMID:9676383 PMID:11668640 PMID:15241806 PMID:16314194 PMID:17142622 PMID:18718593 PMID:20236128 PMID:21418584 PMID:23669246 PMID:25487149 PMID:25637381 PMID:25647241 PMID:27765764
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102774G>A , CM000681.2:g.11102774G>A GRCh38
NC_000019.9:g.11213450G>A , CM000681.1:g.11213450G>A GRCh37
NC_000019.8:g.11074450G>A NCBI36
NG_009060.1:g.18394G>A , LRG_274:g.18394G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.559G>A ENSP00000252444.6:p.Glu187Lys
ENST00000559340.2:c.301G>A ENSP00000453696.2:p.Glu101Lys
ENST00000560467.2:c.301G>A ENSP00000453513.2:p.Glu101Lys
ENST00000558518.6:c.301G>A MANE Select ENSP00000454071.1:p.Glu101Lys
ENST00000252444.9:c.555G>A
ENST00000455727.6:c.301G>A ENSP00000397829.2:p.Glu101Lys
ENST00000535915.5:c.190+2429G>A ENSP00000440520.1:n.190+2429G>A
ENST00000545707.5:c.301G>A ENSP00000437639.1:p.Glu101Lys
ENST00000557933.5:c.301G>A ENSP00000453557.1:p.Glu101Lys
ENST00000557958.1:n.387G>A
ENST00000558013.5:c.301G>A ENSP00000453346.1:p.Glu101Lys
ENST00000558518.5:c.301G>A ENSP00000454071.1:p.Glu101Lys
NM_000527.4:c.301G>A , LRG_274t1:c.301G>A NP_000518.1:p.Glu101Lys
NM_001195798.1:c.301G>A NP_001182727.1:p.Glu101Lys
NM_001195799.1:c.190+2429G>A NP_001182728.1:n.190+2429G>A
NM_001195800.1:c.301G>A NP_001182729.1:p.Glu101Lys
NM_001195803.1:c.301G>A NP_001182732.1:p.Glu101Lys
XM_011528010.1:c.301G>A XP_011526312.1:p.Glu101Lys
XM_011528011.1:c.301G>A XP_011526313.1:p.Glu101Lys
XR_244074.2:n.451G>A
XM_011528010.2:c.301G>A XP_011526312.1:p.Glu101Lys
XR_001753685.2:n.418G>A
XR_001753686.2:n.418G>A
NM_000527.5:c.301G>A MANE Select NP_000518.1:p.Glu101Lys
NM_001195798.2:c.301G>A NP_001182727.1:p.Glu101Lys
NM_001195799.2:c.190+2429G>A NP_001182728.1:n.190+2429G>A
NM_001195800.2:c.301G>A NP_001182729.1:p.Glu101Lys
NM_001195803.2:c.301G>A NP_001182732.1:p.Glu101Lys
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