Canonical Allele Identifier: CA023437
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36453
ClinVar RCV Id: RCV000030125 RCV000844747 RCV001034664 RCV001537253 RCV002051647 RCV002362601
dbSNP Id: rs137943601
ExAC: 19:11223989 G / A
gnomAD v2: 19-11223989-G-A
gnomAD v4: 19-11113313-G-A
COSMIC: COSM710120
MyVariant Identifiers: chr19:g.11223989G>A (hg19) chr19:g.11113313G>A (hg38)
ERepo: CA023437/MONDO:0007750/013
PubMed: PMID:1301956 PMID:9026534 PMID:9698020 PMID:12436241 PMID:14974088 PMID:15199436 PMID:15625190 PMID:15633194 PMID:16250003 PMID:17347910 PMID:17765246 PMID:18022922 PMID:18503695 PMID:19318025 PMID:19843101 PMID:21310417 PMID:21531209 PMID:22698793 PMID:25487149
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113313G>A , CM000681.2:g.11113313G>A GRCh38
NC_000019.9:g.11223989G>A , CM000681.1:g.11223989G>A GRCh37
NC_000019.8:g.11084989G>A NCBI36
NG_009060.1:g.28933G>A , LRG_274:g.28933G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1480G>A ENSP00000252444.6:p.Glu494Lys
ENST00000559340.2:c.1222G>A ENSP00000453696.2:p.Glu408Lys
ENST00000560467.2:c.1102G>A ENSP00000453513.2:p.Glu368Lys
ENST00000558518.6:c.1222G>A MANE Select ENSP00000454071.1:p.Glu408Lys
ENST00000252444.9:c.1476G>A
ENST00000455727.6:c.718G>A ENSP00000397829.2:p.Glu240Lys
ENST00000535915.5:c.1099G>A ENSP00000440520.1:p.Glu367Lys
ENST00000545707.5:c.841G>A ENSP00000437639.1:p.Glu281Lys
ENST00000557933.5:c.1222G>A ENSP00000453557.1:p.Glu408Lys
ENST00000558013.5:c.1222G>A ENSP00000453346.1:p.Glu408Lys
ENST00000558518.5:c.1222G>A ENSP00000454071.1:p.Glu408Lys
ENST00000560173.1:n.221G>A
ENST00000560467.1:c.702G>A
NM_000527.4:c.1222G>A , LRG_274t1:c.1222G>A NP_000518.1:p.Glu408Lys
NM_001195798.1:c.1222G>A NP_001182727.1:p.Glu408Lys
NM_001195799.1:c.1099G>A NP_001182728.1:p.Glu367Lys
NM_001195800.1:c.718G>A NP_001182729.1:p.Glu240Lys
NM_001195803.1:c.841G>A NP_001182732.1:p.Glu281Lys
XM_011528010.1:c.1222G>A XP_011526312.1:p.Glu408Lys
XM_011528011.1:c.841G>A XP_011526313.1:p.Glu281Lys
XR_244074.2:n.1372G>A
XM_011528010.2:c.1222G>A XP_011526312.1:p.Glu408Lys
XR_001753685.2:n.1339G>A
XR_001753686.2:n.1339G>A
NM_000527.5:c.1222G>A MANE Select NP_000518.1:p.Glu408Lys
NM_001195798.2:c.1222G>A NP_001182727.1:p.Glu408Lys
NM_001195799.2:c.1099G>A NP_001182728.1:p.Glu367Lys
NM_001195800.2:c.718G>A NP_001182729.1:p.Glu240Lys
NM_001195803.2:c.841G>A NP_001182732.1:p.Glu281Lys
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