Canonical Allele Identifier: CA632115415
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1205093051

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129467C>T , CM000681.2:g.11129467C>T GRCh38
NC_000019.9:g.11240143C>T , CM000681.1:g.11240143C>T GRCh37
NC_000019.8:g.11101143C>T NCBI36
NG_009060.1:g.45087C>T , LRG_274:g.45087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-46C>T ENSP00000252444.6:n.2648-46C>T
ENST00000559340.2:c.*459-46C>T ENSP00000453696.2:n.*459-46C>T
ENST00000560467.2:c.2270-46C>T ENSP00000453513.2:n.2270-46C>T
ENST00000558518.6:c.2390-46C>T MANE Select ENSP00000454071.1:n.2390-46C>T
ENST00000252444.9:c.2644-46C>T
ENST00000455727.6:c.1886-46C>T ENSP00000397829.2:n.1886-46C>T
ENST00000535915.5:c.2267-46C>T ENSP00000440520.1:n.2267-46C>T
ENST00000545707.5:c.1856-46C>T ENSP00000437639.1:n.1856-46C>T
ENST00000557933.5:c.2406C>T ENSP00000453557.1:p.Leu802=
ENST00000558013.5:c.2390-46C>T ENSP00000453346.1:n.2390-46C>T
ENST00000558518.5:c.2390-46C>T ENSP00000454071.1:n.2390-46C>T
ENST00000560628.1:n.108+1813C>T
NM_000527.4:c.2390-46C>T , LRG_274t1:c.2390-46C>T NP_000518.1:n.2390-46C>T
NM_001195798.1:c.2390-46C>T NP_001182727.1:n.2390-46C>T
NM_001195799.1:c.2267-46C>T NP_001182728.1:n.2267-46C>T
NM_001195800.1:c.1886-46C>T NP_001182729.1:n.1886-46C>T
NM_001195803.1:c.1856-46C>T NP_001182732.1:n.1856-46C>T
XM_011528010.1:c.2312-46C>T XP_011526312.1:n.2312-46C>T
XM_011528011.1:c.2009-46C>T XP_011526313.1:n.2009-46C>T
XR_244074.2:n.2400-46C>T
XM_011528010.2:c.2312-46C>T XP_011526312.1:n.2312-46C>T
XR_001753685.2:n.2724-46C>T
XR_001753686.2:n.2367-46C>T
NM_000527.5:c.2390-46C>T MANE Select NP_000518.1:n.2390-46C>T
NM_001195798.2:c.2390-46C>T NP_001182727.1:n.2390-46C>T
NM_001195799.2:c.2267-46C>T NP_001182728.1:n.2267-46C>T
NM_001195800.2:c.1886-46C>T NP_001182729.1:n.1886-46C>T
NM_001195803.2:c.1856-46C>T NP_001182732.1:n.1856-46C>T