Canonical Allele Identifier: CA404099979
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129668T>A , CM000681.2:g.11129668T>A GRCh38
NC_000019.9:g.11240344T>A , CM000681.1:g.11240344T>A GRCh37
NC_000019.8:g.11101344T>A NCBI36
NG_009060.1:g.45288T>A , LRG_274:g.45288T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2803T>A ENSP00000252444.6:p.Ser935Thr
ENST00000559340.2:c.*614T>A ENSP00000453696.2:n.*614T>A
ENST00000560467.2:c.2425T>A ENSP00000453513.2:p.Ser809Thr
ENST00000558518.6:c.2545T>A MANE Select ENSP00000454071.1:p.Ser849Thr
ENST00000252444.9:c.2799T>A
ENST00000455727.6:c.2041T>A ENSP00000397829.2:p.Ser681Thr
ENST00000535915.5:c.2422T>A ENSP00000440520.1:p.Ser808Thr
ENST00000545707.5:c.2011T>A ENSP00000437639.1:p.Ser671Thr
ENST00000557933.5:c.2607T>A ENSP00000453557.1:p.Pro869=
ENST00000558013.5:c.2545T>A ENSP00000453346.1:p.Ser849Thr
ENST00000558518.5:c.2545T>A ENSP00000454071.1:p.Ser849Thr
ENST00000560628.1:n.108+2014T>A
NM_000527.4:c.2545T>A , LRG_274t1:c.2545T>A NP_000518.1:p.Ser849Thr
NM_001195798.1:c.2545T>A NP_001182727.1:p.Ser849Thr
NM_001195799.1:c.2422T>A NP_001182728.1:p.Ser808Thr
NM_001195800.1:c.2041T>A NP_001182729.1:p.Ser681Thr
NM_001195803.1:c.2011T>A NP_001182732.1:p.Ser671Thr
XM_011528010.1:c.2467T>A XP_011526312.1:p.Ser823Thr
XM_011528011.1:c.2164T>A XP_011526313.1:p.Ser722Thr
XM_011528010.2:c.2467T>A XP_011526312.1:p.Ser823Thr
XR_001753685.2:n.2879T>A
XR_001753686.2:n.2522T>A
NM_000527.5:c.2545T>A MANE Select NP_000518.1:p.Ser849Thr
NM_001195798.2:c.2545T>A NP_001182727.1:p.Ser849Thr
NM_001195799.2:c.2422T>A NP_001182728.1:p.Ser808Thr
NM_001195800.2:c.2041T>A NP_001182729.1:p.Ser681Thr
NM_001195803.2:c.2011T>A NP_001182732.1:p.Ser671Thr