Canonical Allele Identifier: CA10585850
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252320
ClinVar RCV Id: RCV000237210 RCV002446480
dbSNP Id: rs879255196
MyVariant Identifiers: chr19:g.11240195T>G (hg19) chr19:g.11129519T>G (hg38)
PubMed: PMID:21310417 PMID:22698793 PMID:26220972
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129519T>G , CM000681.2:g.11129519T>G GRCh38
NC_000019.9:g.11240195T>G , CM000681.1:g.11240195T>G GRCh37
NC_000019.8:g.11101195T>G NCBI36
NG_009060.1:g.45139T>G , LRG_274:g.45139T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2654T>G ENSP00000252444.6:p.Leu885Arg
ENST00000559340.2:c.*465T>G ENSP00000453696.2:n.*465T>G
ENST00000560467.2:c.2276T>G ENSP00000453513.2:p.Leu759Arg
ENST00000558518.6:c.2396T>G MANE Select ENSP00000454071.1:p.Leu799Arg
ENST00000252444.9:c.2650T>G
ENST00000455727.6:c.1892T>G ENSP00000397829.2:p.Leu631Arg
ENST00000535915.5:c.2273T>G ENSP00000440520.1:p.Leu758Arg
ENST00000545707.5:c.1862T>G ENSP00000437639.1:p.Leu621Arg
ENST00000557933.5:c.2458T>G ENSP00000453557.1:p.Ser820Ala
ENST00000558013.5:c.2396T>G ENSP00000453346.1:p.Leu799Arg
ENST00000558518.5:c.2396T>G ENSP00000454071.1:p.Leu799Arg
ENST00000560628.1:n.108+1865T>G
NM_000527.4:c.2396T>G , LRG_274t1:c.2396T>G NP_000518.1:p.Leu799Arg
NM_001195798.1:c.2396T>G NP_001182727.1:p.Leu799Arg
NM_001195799.1:c.2273T>G NP_001182728.1:p.Leu758Arg
NM_001195800.1:c.1892T>G NP_001182729.1:p.Leu631Arg
NM_001195803.1:c.1862T>G NP_001182732.1:p.Leu621Arg
XM_011528010.1:c.2318T>G XP_011526312.1:p.Leu773Arg
XM_011528011.1:c.2015T>G XP_011526313.1:p.Leu672Arg
XR_244074.2:n.2406T>G
XM_011528010.2:c.2318T>G XP_011526312.1:p.Leu773Arg
XR_001753685.2:n.2730T>G
XR_001753686.2:n.2373T>G
NM_000527.5:c.2396T>G MANE Select NP_000518.1:p.Leu799Arg
NM_001195798.2:c.2396T>G NP_001182727.1:p.Leu799Arg
NM_001195799.2:c.2273T>G NP_001182728.1:p.Leu758Arg
NM_001195800.2:c.1892T>G NP_001182729.1:p.Leu631Arg
NM_001195803.2:c.1862T>G NP_001182732.1:p.Leu621Arg
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