Canonical Allele Identifier: CA404095547
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 629261
ClinVar RCV Id: RCV000773961
dbSNP Id: rs1568614801
MyVariant Identifiers: chr19:g.11233978C>G (hg19) chr19:g.11123302C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123302C>G , CM000681.2:g.11123302C>G GRCh38
NC_000019.9:g.11233978C>G , CM000681.1:g.11233978C>G GRCh37
NC_000019.8:g.11094978C>G NCBI36
NG_009060.1:g.38922C>G , LRG_274:g.38922C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2527C>G ENSP00000252444.6:p.Pro843Ala
ENST00000559340.2:c.*338C>G ENSP00000453696.2:n.*338C>G
ENST00000560467.2:c.2149C>G ENSP00000453513.2:p.Pro717Ala
ENST00000558518.6:c.2269C>G MANE Select ENSP00000454071.1:p.Pro757Ala
ENST00000252444.9:c.2523C>G
ENST00000455727.6:c.1765C>G ENSP00000397829.2:p.Pro589Ala
ENST00000535915.5:c.2146C>G ENSP00000440520.1:p.Pro716Ala
ENST00000545707.5:c.1735C>G ENSP00000437639.1:p.Pro579Ala
ENST00000557933.5:c.2269C>G ENSP00000453557.1:p.Pro757Ala
ENST00000558013.5:c.2269C>G ENSP00000453346.1:p.Pro757Ala
ENST00000558518.5:c.2269C>G ENSP00000454071.1:p.Pro757Ala
NM_000527.4:c.2269C>G , LRG_274t1:c.2269C>G NP_000518.1:p.Pro757Ala
NM_001195798.1:c.2269C>G NP_001182727.1:p.Pro757Ala
NM_001195799.1:c.2146C>G NP_001182728.1:p.Pro716Ala
NM_001195800.1:c.1765C>G NP_001182729.1:p.Pro589Ala
NM_001195803.1:c.1735C>G NP_001182732.1:p.Pro579Ala
XM_011528010.1:c.2269C>G XP_011526312.1:p.Pro757Ala
XM_011528011.1:c.1888C>G XP_011526313.1:p.Pro630Ala
XR_244074.2:n.2279C>G
XM_011528010.2:c.2269C>G XP_011526312.1:p.Pro757Ala
XR_001753685.2:n.2603C>G
XR_001753686.2:n.2246C>G
NM_000527.5:c.2269C>G MANE Select NP_000518.1:p.Pro757Ala
NM_001195798.2:c.2269C>G NP_001182727.1:p.Pro757Ala
NM_001195799.2:c.2146C>G NP_001182728.1:p.Pro716Ala
NM_001195800.2:c.1765C>G NP_001182729.1:p.Pro589Ala
NM_001195803.2:c.1735C>G NP_001182732.1:p.Pro579Ala
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