Canonical Allele Identifier: CA404098943
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11129577-C-G
COSMIC: COSM3388570
MyVariant Identifiers: chr19:g.11240253C>G (hg19) chr19:g.11129577C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129577C>G , CM000681.2:g.11129577C>G GRCh38
NC_000019.9:g.11240253C>G , CM000681.1:g.11240253C>G GRCh37
NC_000019.8:g.11101253C>G NCBI36
NG_009060.1:g.45197C>G , LRG_274:g.45197C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2712C>G ENSP00000252444.6:p.Ile904Met
ENST00000559340.2:c.*523C>G ENSP00000453696.2:n.*523C>G
ENST00000560467.2:c.2334C>G ENSP00000453513.2:p.Ile778Met
ENST00000558518.6:c.2454C>G MANE Select ENSP00000454071.1:p.Ile818Met
ENST00000252444.9:c.2708C>G
ENST00000455727.6:c.1950C>G ENSP00000397829.2:p.Ile650Met
ENST00000535915.5:c.2331C>G ENSP00000440520.1:p.Ile777Met
ENST00000545707.5:c.1920C>G ENSP00000437639.1:p.Ile640Met
ENST00000557933.5:c.2516C>G ENSP00000453557.1:p.Ser839Ter
ENST00000558013.5:c.2454C>G ENSP00000453346.1:p.Ile818Met
ENST00000558518.5:c.2454C>G ENSP00000454071.1:p.Ile818Met
ENST00000560628.1:n.108+1923C>G
NM_000527.4:c.2454C>G , LRG_274t1:c.2454C>G NP_000518.1:p.Ile818Met
NM_001195798.1:c.2454C>G NP_001182727.1:p.Ile818Met
NM_001195799.1:c.2331C>G NP_001182728.1:p.Ile777Met
NM_001195800.1:c.1950C>G NP_001182729.1:p.Ile650Met
NM_001195803.1:c.1920C>G NP_001182732.1:p.Ile640Met
XM_011528010.1:c.2376C>G XP_011526312.1:p.Ile792Met
XM_011528011.1:c.2073C>G XP_011526313.1:p.Ile691Met
XM_011528010.2:c.2376C>G XP_011526312.1:p.Ile792Met
XR_001753685.2:n.2788C>G
XR_001753686.2:n.2431C>G
NM_000527.5:c.2454C>G MANE Select NP_000518.1:p.Ile818Met
NM_001195798.2:c.2454C>G NP_001182727.1:p.Ile818Met
NM_001195799.2:c.2331C>G NP_001182728.1:p.Ile777Met
NM_001195800.2:c.1950C>G NP_001182729.1:p.Ile650Met
NM_001195803.2:c.1920C>G NP_001182732.1:p.Ile640Met
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