Canonical Allele Identifier: CA2322780175
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077682916

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129371C>T , CM000681.2:g.11129371C>T GRCh38
NC_000019.9:g.11240047C>T , CM000681.1:g.11240047C>T GRCh37
NC_000019.8:g.11101047C>T NCBI36
NG_009060.1:g.44991C>T , LRG_274:g.44991C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-142C>T ENSP00000252444.6:n.2648-142C>T
ENST00000559340.2:c.*459-142C>T ENSP00000453696.2:n.*459-142C>T
ENST00000560467.2:c.2270-142C>T ENSP00000453513.2:n.2270-142C>T
ENST00000558518.6:c.2390-142C>T MANE Select ENSP00000454071.1:n.2390-142C>T
ENST00000252444.9:c.2644-142C>T
ENST00000455727.6:c.1886-142C>T ENSP00000397829.2:n.1886-142C>T
ENST00000535915.5:c.2267-142C>T ENSP00000440520.1:n.2267-142C>T
ENST00000545707.5:c.1856-142C>T ENSP00000437639.1:n.1856-142C>T
ENST00000557933.5:c.2390-80C>T ENSP00000453557.1:n.2390-80C>T
ENST00000558013.5:c.2390-142C>T ENSP00000453346.1:n.2390-142C>T
ENST00000558518.5:c.2390-142C>T ENSP00000454071.1:n.2390-142C>T
ENST00000560628.1:n.108+1717C>T
NM_000527.4:c.2390-142C>T , LRG_274t1:c.2390-142C>T NP_000518.1:n.2390-142C>T
NM_001195798.1:c.2390-142C>T NP_001182727.1:n.2390-142C>T
NM_001195799.1:c.2267-142C>T NP_001182728.1:n.2267-142C>T
NM_001195800.1:c.1886-142C>T NP_001182729.1:n.1886-142C>T
NM_001195803.1:c.1856-142C>T NP_001182732.1:n.1856-142C>T
XM_011528010.1:c.2312-142C>T XP_011526312.1:n.2312-142C>T
XM_011528011.1:c.2009-142C>T XP_011526313.1:n.2009-142C>T
XR_244074.2:n.2400-142C>T
XM_011528010.2:c.2312-142C>T XP_011526312.1:n.2312-142C>T
XR_001753685.2:n.2724-142C>T
XR_001753686.2:n.2367-142C>T
NM_000527.5:c.2390-142C>T MANE Select NP_000518.1:n.2390-142C>T
NM_001195798.2:c.2390-142C>T NP_001182727.1:n.2390-142C>T
NM_001195799.2:c.2267-142C>T NP_001182728.1:n.2267-142C>T
NM_001195800.2:c.1886-142C>T NP_001182729.1:n.1886-142C>T
NM_001195803.2:c.1856-142C>T NP_001182732.1:n.1856-142C>T