Canonical Allele Identifier: CA023679
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3704
ClinVar RCV Id: RCV000003893 RCV000162025 RCV002426485 RCV002512729
dbSNP Id: rs28942085
gnomAD v4: 19-11129606-A-G
MyVariant Identifiers: chr19:g.11240282A>G (hg19) chr19:g.11129606A>G (hg38)
PubMed: PMID:200368 PMID:3955657 PMID:8882879 PMID:16740646 PMID:20145306 PMID:25647241
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129606A>G , CM000681.2:g.11129606A>G GRCh38
NC_000019.9:g.11240282A>G , CM000681.1:g.11240282A>G GRCh37
NC_000019.8:g.11101282A>G NCBI36
NG_009060.1:g.45226A>G , LRG_274:g.45226A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2741A>G ENSP00000252444.6:p.Tyr914Cys
ENST00000559340.2:c.*552A>G ENSP00000453696.2:n.*552A>G
ENST00000560467.2:c.2363A>G ENSP00000453513.2:p.Tyr788Cys
ENST00000558518.6:c.2483A>G MANE Select ENSP00000454071.1:p.Tyr828Cys
ENST00000252444.9:c.2737A>G
ENST00000455727.6:c.1979A>G ENSP00000397829.2:p.Tyr660Cys
ENST00000535915.5:c.2360A>G ENSP00000440520.1:p.Tyr787Cys
ENST00000545707.5:c.1949A>G ENSP00000437639.1:p.Tyr650Cys
ENST00000557933.5:c.2545A>G ENSP00000453557.1:p.Ile849Val
ENST00000558013.5:c.2483A>G ENSP00000453346.1:p.Tyr828Cys
ENST00000558518.5:c.2483A>G ENSP00000454071.1:p.Tyr828Cys
ENST00000560628.1:n.108+1952A>G
NM_000527.4:c.2483A>G , LRG_274t1:c.2483A>G NP_000518.1:p.Tyr828Cys
NM_001195798.1:c.2483A>G NP_001182727.1:p.Tyr828Cys
NM_001195799.1:c.2360A>G NP_001182728.1:p.Tyr787Cys
NM_001195800.1:c.1979A>G NP_001182729.1:p.Tyr660Cys
NM_001195803.1:c.1949A>G NP_001182732.1:p.Tyr650Cys
XM_011528010.1:c.2405A>G XP_011526312.1:p.Tyr802Cys
XM_011528011.1:c.2102A>G XP_011526313.1:p.Tyr701Cys
XM_011528010.2:c.2405A>G XP_011526312.1:p.Tyr802Cys
XR_001753685.2:n.2817A>G
XR_001753686.2:n.2460A>G
NM_000527.5:c.2483A>G MANE Select NP_000518.1:p.Tyr828Cys
NM_001195798.2:c.2483A>G NP_001182727.1:p.Tyr828Cys
NM_001195799.2:c.2360A>G NP_001182728.1:p.Tyr787Cys
NM_001195800.2:c.1979A>G NP_001182729.1:p.Tyr660Cys
NM_001195803.2:c.1949A>G NP_001182732.1:p.Tyr650Cys
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