Canonical Allele Identifier: CA2499225336
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1096204
ClinVar RCV Id: RCV001417346
dbSNP Id: rs2147287504
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129680C>T , CM000681.2:g.11129680C>T GRCh38
NC_000019.9:g.11240356C>T , CM000681.1:g.11240356C>T GRCh37
NC_000019.8:g.11101356C>T NCBI36
NG_009060.1:g.45300C>T , LRG_274:g.45300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2805+10C>T ENSP00000252444.6:n.2805+10C>T
ENST00000559340.2:c.*616+10C>T ENSP00000453696.2:n.*616+10C>T
ENST00000560467.2:c.2427+10C>T ENSP00000453513.2:n.2427+10C>T
ENST00000558518.6:c.2547+10C>T MANE Select ENSP00000454071.1:n.2547+10C>T
ENST00000252444.9:c.2801+10C>T
ENST00000455727.6:c.2043+10C>T ENSP00000397829.2:n.2043+10C>T
ENST00000535915.5:c.2424+10C>T ENSP00000440520.1:n.2424+10C>T
ENST00000545707.5:c.2013+10C>T ENSP00000437639.1:n.2013+10C>T
ENST00000557933.5:c.2609+10C>T ENSP00000453557.1:n.2609+10C>T
ENST00000558013.5:c.2547+10C>T ENSP00000453346.1:n.2547+10C>T
ENST00000558518.5:c.2547+10C>T ENSP00000454071.1:n.2547+10C>T
ENST00000560628.1:n.108+2026C>T
NM_000527.4:c.2547+10C>T , LRG_274t1:c.2547+10C>T NP_000518.1:n.2547+10C>T
NM_001195798.1:c.2547+10C>T NP_001182727.1:n.2547+10C>T
NM_001195799.1:c.2424+10C>T NP_001182728.1:n.2424+10C>T
NM_001195800.1:c.2043+10C>T NP_001182729.1:n.2043+10C>T
NM_001195803.1:c.2013+10C>T NP_001182732.1:n.2013+10C>T
XM_011528010.1:c.2469+10C>T XP_011526312.1:n.2469+10C>T
XM_011528011.1:c.2166+10C>T XP_011526313.1:n.2166+10C>T
XM_011528010.2:c.2469+10C>T XP_011526312.1:n.2469+10C>T
XR_001753685.2:n.2881+10C>T
XR_001753686.2:n.2524+10C>T
NM_000527.5:c.2547+10C>T MANE Select NP_000518.1:n.2547+10C>T
NM_001195798.2:c.2547+10C>T NP_001182727.1:n.2547+10C>T
NM_001195799.2:c.2424+10C>T NP_001182728.1:n.2424+10C>T
NM_001195800.2:c.2043+10C>T NP_001182729.1:n.2043+10C>T
NM_001195803.2:c.2013+10C>T NP_001182732.1:n.2013+10C>T
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