Canonical Allele Identifier: CA2322767189
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077264014
gnomAD v3: 19-11105093-C-G
gnomAD v4: 19-11105093-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105093C>G , CM000681.2:g.11105093C>G GRCh38
NC_000019.9:g.11215769C>G , CM000681.1:g.11215769C>G GRCh37
NC_000019.8:g.11076769C>G NCBI36
NG_009060.1:g.20713C>G , LRG_274:g.20713C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.572-127C>G ENSP00000252444.6:n.572-127C>G
ENST00000559340.2:c.314-127C>G ENSP00000453696.2:n.314-127C>G
ENST00000560467.2:c.314-127C>G ENSP00000453513.2:n.314-127C>G
ENST00000558518.6:c.314-127C>G MANE Select ENSP00000454071.1:n.314-127C>G
ENST00000252444.9:c.568-127C>G
ENST00000455727.6:c.314-2299C>G ENSP00000397829.2:n.314-2299C>G
ENST00000535915.5:c.191-127C>G ENSP00000440520.1:n.191-127C>G
ENST00000545707.5:c.314-1472C>G ENSP00000437639.1:n.314-1472C>G
ENST00000557933.5:c.314-127C>G ENSP00000453557.1:n.314-127C>G
ENST00000558013.5:c.314-127C>G ENSP00000453346.1:n.314-127C>G
ENST00000558518.5:c.314-127C>G ENSP00000454071.1:n.314-127C>G
NM_000527.4:c.314-127C>G , LRG_274t1:c.314-127C>G NP_000518.1:n.314-127C>G
NM_001195798.1:c.314-127C>G NP_001182727.1:n.314-127C>G
NM_001195799.1:c.191-127C>G NP_001182728.1:n.191-127C>G
NM_001195800.1:c.314-2299C>G NP_001182729.1:n.314-2299C>G
NM_001195803.1:c.314-1472C>G NP_001182732.1:n.314-1472C>G
XM_011528010.1:c.314-127C>G XP_011526312.1:n.314-127C>G
XM_011528011.1:c.314-1472C>G XP_011526313.1:n.314-1472C>G
XR_244074.2:n.464-127C>G
XM_011528010.2:c.314-127C>G XP_011526312.1:n.314-127C>G
XR_001753685.2:n.431-127C>G
XR_001753686.2:n.431-127C>G
NM_000527.5:c.314-127C>G MANE Select NP_000518.1:n.314-127C>G
NM_001195798.2:c.314-127C>G NP_001182727.1:n.314-127C>G
NM_001195799.2:c.191-127C>G NP_001182728.1:n.191-127C>G
NM_001195800.2:c.314-2299C>G NP_001182729.1:n.314-2299C>G
NM_001195803.2:c.314-1472C>G NP_001182732.1:n.314-1472C>G
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