Canonical Allele Identifier: CA404096908
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2542522
ClinVar RCV Id: RCV004314244
MyVariant Identifiers: chr19:g.11238756C>G (hg19) chr19:g.11128080C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128080C>G , CM000681.2:g.11128080C>G GRCh38
NC_000019.9:g.11238756C>G , CM000681.1:g.11238756C>G GRCh37
NC_000019.8:g.11099756C>G NCBI36
NG_009060.1:g.43700C>G , LRG_274:g.43700C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2642C>G ENSP00000252444.6:p.Pro881Arg
ENST00000559340.2:c.*453C>G ENSP00000453696.2:n.*453C>G
ENST00000560467.2:c.2264C>G ENSP00000453513.2:p.Pro755Arg
ENST00000558518.6:c.2384C>G MANE Select ENSP00000454071.1:p.Pro795Arg
ENST00000252444.9:c.2638C>G
ENST00000455727.6:c.1880C>G ENSP00000397829.2:p.Pro627Arg
ENST00000535915.5:c.2261C>G ENSP00000440520.1:p.Pro754Arg
ENST00000545707.5:c.1850C>G ENSP00000437639.1:p.Pro617Arg
ENST00000557933.5:c.2384C>G ENSP00000453557.1:p.Pro795Arg
ENST00000558013.5:c.2384C>G ENSP00000453346.1:p.Pro795Arg
ENST00000558518.5:c.2384C>G ENSP00000454071.1:p.Pro795Arg
ENST00000560628.1:n.108+426C>G
NM_000527.4:c.2384C>G , LRG_274t1:c.2384C>G NP_000518.1:p.Pro795Arg
NM_001195798.1:c.2384C>G NP_001182727.1:p.Pro795Arg
NM_001195799.1:c.2261C>G NP_001182728.1:p.Pro754Arg
NM_001195800.1:c.1880C>G NP_001182729.1:p.Pro627Arg
NM_001195803.1:c.1850C>G NP_001182732.1:p.Pro617Arg
XM_011528010.1:c.2312-1433C>G XP_011526312.1:n.2312-1433C>G
XM_011528011.1:c.2003C>G XP_011526313.1:p.Pro668Arg
XR_244074.2:n.2394C>G
XM_011528010.2:c.2312-1433C>G XP_011526312.1:n.2312-1433C>G
XR_001753685.2:n.2718C>G
XR_001753686.2:n.2361C>G
NM_000527.5:c.2384C>G MANE Select NP_000518.1:p.Pro795Arg
NM_001195798.2:c.2384C>G NP_001182727.1:p.Pro795Arg
NM_001195799.2:c.2261C>G NP_001182728.1:p.Pro754Arg
NM_001195800.2:c.1880C>G NP_001182729.1:p.Pro627Arg
NM_001195803.2:c.1850C>G NP_001182732.1:p.Pro617Arg
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