Canonical Allele Identifier: CA404098994
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129581A>T , CM000681.2:g.11129581A>T GRCh38
NC_000019.9:g.11240257A>T , CM000681.1:g.11240257A>T GRCh37
NC_000019.8:g.11101257A>T NCBI36
NG_009060.1:g.45201A>T , LRG_274:g.45201A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2716A>T ENSP00000252444.6:p.Ser906Cys
ENST00000559340.2:c.*527A>T ENSP00000453696.2:n.*527A>T
ENST00000560467.2:c.2338A>T ENSP00000453513.2:p.Ser780Cys
ENST00000558518.6:c.2458A>T MANE Select ENSP00000454071.1:p.Ser820Cys
ENST00000252444.9:c.2712A>T
ENST00000455727.6:c.1954A>T ENSP00000397829.2:p.Ser652Cys
ENST00000535915.5:c.2335A>T ENSP00000440520.1:p.Ser779Cys
ENST00000545707.5:c.1924A>T ENSP00000437639.1:p.Ser642Cys
ENST00000557933.5:c.2520A>T ENSP00000453557.1:p.Thr840=
ENST00000558013.5:c.2458A>T ENSP00000453346.1:p.Ser820Cys
ENST00000558518.5:c.2458A>T ENSP00000454071.1:p.Ser820Cys
ENST00000560628.1:n.108+1927A>T
NM_000527.4:c.2458A>T , LRG_274t1:c.2458A>T NP_000518.1:p.Ser820Cys
NM_001195798.1:c.2458A>T NP_001182727.1:p.Ser820Cys
NM_001195799.1:c.2335A>T NP_001182728.1:p.Ser779Cys
NM_001195800.1:c.1954A>T NP_001182729.1:p.Ser652Cys
NM_001195803.1:c.1924A>T NP_001182732.1:p.Ser642Cys
XM_011528010.1:c.2380A>T XP_011526312.1:p.Ser794Cys
XM_011528011.1:c.2077A>T XP_011526313.1:p.Ser693Cys
XM_011528010.2:c.2380A>T XP_011526312.1:p.Ser794Cys
XR_001753685.2:n.2792A>T
XR_001753686.2:n.2435A>T
NM_000527.5:c.2458A>T MANE Select NP_000518.1:p.Ser820Cys
NM_001195798.2:c.2458A>T NP_001182727.1:p.Ser820Cys
NM_001195799.2:c.2335A>T NP_001182728.1:p.Ser779Cys
NM_001195800.2:c.1954A>T NP_001182729.1:p.Ser652Cys
NM_001195803.2:c.1924A>T NP_001182732.1:p.Ser642Cys