Canonical Allele Identifier: CA023765
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161287
ClinVar RCV Id: RCV000172959 RCV000162020 RCV000791360 RCV000844745 RCV002051680 RCV002408658
dbSNP Id: rs139043155
ExAC: 19:11217344 T / A
gnomAD v2: 19-11217344-T-A
gnomAD v3: 19-11106668-T-A
gnomAD v4: 19-11106668-T-A
MyVariant Identifiers: chr19:g.11217344T>A (hg19) chr19:g.11106668T>A (hg38)
ERepo: CA023765/MONDO:0007750/013
PubMed: PMID:1301956 PMID:1734910 PMID:10657581 PMID:11196104 PMID:11754108 PMID:11810272 PMID:15199436 PMID:16542394 PMID:20145306 PMID:20663204 PMID:21310417 PMID:22698793 PMID:23375686 PMID:25487149 PMID:25637381 PMID:25647241 PMID:26036859 PMID:26892515 PMID:27765764
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106668T>A , CM000681.2:g.11106668T>A GRCh38
NC_000019.9:g.11217344T>A , CM000681.1:g.11217344T>A GRCh37
NC_000019.8:g.11078344T>A NCBI36
NG_009060.1:g.22288T>A , LRG_274:g.22288T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1056T>A ENSP00000252444.6:p.Asp352Glu
ENST00000559340.2:c.798T>A ENSP00000453696.2:p.Asp266Glu
ENST00000560467.2:c.798T>A ENSP00000453513.2:p.Asp266Glu
ENST00000558518.6:c.798T>A MANE Select ENSP00000454071.1:p.Asp266Glu
ENST00000252444.9:c.1052T>A
ENST00000455727.6:c.314-724T>A ENSP00000397829.2:n.314-724T>A
ENST00000535915.5:c.675T>A ENSP00000440520.1:p.Asp225Glu
ENST00000545707.5:c.417T>A ENSP00000437639.1:p.Asp139Glu
ENST00000557933.5:c.798T>A ENSP00000453557.1:p.Asp266Glu
ENST00000558013.5:c.798T>A ENSP00000453346.1:p.Asp266Glu
ENST00000558518.5:c.798T>A ENSP00000454071.1:p.Asp266Glu
ENST00000558528.1:n.313T>A
ENST00000560467.1:c.398T>A
NM_000527.4:c.798T>A , LRG_274t1:c.798T>A NP_000518.1:p.Asp266Glu
NM_001195798.1:c.798T>A NP_001182727.1:p.Asp266Glu
NM_001195799.1:c.675T>A NP_001182728.1:p.Asp225Glu
NM_001195800.1:c.314-724T>A NP_001182729.1:n.314-724T>A
NM_001195803.1:c.417T>A NP_001182732.1:p.Asp139Glu
XM_011528010.1:c.798T>A XP_011526312.1:p.Asp266Glu
XM_011528011.1:c.417T>A XP_011526313.1:p.Asp139Glu
XR_244074.2:n.948T>A
XM_011528010.2:c.798T>A XP_011526312.1:p.Asp266Glu
XR_001753685.2:n.915T>A
XR_001753686.2:n.915T>A
NM_000527.5:c.798T>A MANE Select NP_000518.1:p.Asp266Glu
NM_001195798.2:c.798T>A NP_001182727.1:p.Asp266Glu
NM_001195799.2:c.675T>A NP_001182728.1:p.Asp225Glu
NM_001195800.2:c.314-724T>A NP_001182729.1:n.314-724T>A
NM_001195803.2:c.417T>A NP_001182732.1:p.Asp139Glu
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