Canonical Allele Identifier: CA404098146
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129507C>A , CM000681.2:g.11129507C>A GRCh38
NC_000019.9:g.11240183C>A , CM000681.1:g.11240183C>A GRCh37
NC_000019.8:g.11101183C>A NCBI36
NG_009060.1:g.45127C>A , LRG_274:g.45127C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2648-6C>A ENSP00000252444.6:n.2648-6C>A
ENST00000559340.2:c.*459-6C>A ENSP00000453696.2:n.*459-6C>A
ENST00000560467.2:c.2270-6C>A ENSP00000453513.2:n.2270-6C>A
ENST00000558518.6:c.2390-6C>A MANE Select ENSP00000454071.1:n.2390-6C>A
ENST00000252444.9:c.2644-6C>A
ENST00000455727.6:c.1886-6C>A ENSP00000397829.2:n.1886-6C>A
ENST00000535915.5:c.2267-6C>A ENSP00000440520.1:n.2267-6C>A
ENST00000545707.5:c.1856-6C>A ENSP00000437639.1:n.1856-6C>A
ENST00000557933.5:c.2446C>A ENSP00000453557.1:p.Leu816Ile
ENST00000558013.5:c.2390-6C>A ENSP00000453346.1:n.2390-6C>A
ENST00000558518.5:c.2390-6C>A ENSP00000454071.1:n.2390-6C>A
ENST00000560628.1:n.108+1853C>A
NM_000527.4:c.2390-6C>A , LRG_274t1:c.2390-6C>A NP_000518.1:n.2390-6C>A
NM_001195798.1:c.2390-6C>A NP_001182727.1:n.2390-6C>A
NM_001195799.1:c.2267-6C>A NP_001182728.1:n.2267-6C>A
NM_001195800.1:c.1886-6C>A NP_001182729.1:n.1886-6C>A
NM_001195803.1:c.1856-6C>A NP_001182732.1:n.1856-6C>A
XM_011528010.1:c.2312-6C>A XP_011526312.1:n.2312-6C>A
XM_011528011.1:c.2009-6C>A XP_011526313.1:n.2009-6C>A
XR_244074.2:n.2400-6C>A
XM_011528010.2:c.2312-6C>A XP_011526312.1:n.2312-6C>A
XR_001753685.2:n.2724-6C>A
XR_001753686.2:n.2367-6C>A
NM_000527.5:c.2390-6C>A MANE Select NP_000518.1:n.2390-6C>A
NM_001195798.2:c.2390-6C>A NP_001182727.1:n.2390-6C>A
NM_001195799.2:c.2267-6C>A NP_001182728.1:n.2267-6C>A
NM_001195800.2:c.1886-6C>A NP_001182729.1:n.1886-6C>A
NM_001195803.2:c.1856-6C>A NP_001182732.1:n.1856-6C>A