Canonical Allele Identifier: CA2322780289
Gene: LDLR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2716A= ENSP00000252444.6:p.Ser906=
ENST00000559340.2:c.*527A= ENSP00000453696.2:n.*527A=
ENST00000560467.2:c.2338A= ENSP00000453513.2:p.Ser780=
ENST00000558518.6:c.2458A= MANE Select ENSP00000454071.1:p.Ser820=
ENST00000252444.9:c.2712A=
ENST00000455727.6:c.1954A= ENSP00000397829.2:p.Ser652=
ENST00000535915.5:c.2335A= ENSP00000440520.1:p.Ser779=
ENST00000545707.5:c.1924A= ENSP00000437639.1:p.Ser642=
ENST00000557933.5:c.2520A= ENSP00000453557.1:p.Thr840=
ENST00000558013.5:c.2458A= ENSP00000453346.1:p.Ser820=
ENST00000558518.5:c.2458A= ENSP00000454071.1:p.Ser820=
ENST00000560628.1:n.108+1927A=
NM_000527.4:c.2458A= , LRG_274t1:c.2458A= NP_000518.1:p.Ser820=
NM_001195798.1:c.2458A= NP_001182727.1:p.Ser820=
NM_001195799.1:c.2335A= NP_001182728.1:p.Ser779=
NM_001195800.1:c.1954A= NP_001182729.1:p.Ser652=
NM_001195803.1:c.1924A= NP_001182732.1:p.Ser642=
XM_011528010.1:c.2380A= XP_011526312.1:p.Ser794=
XM_011528011.1:c.2077A= XP_011526313.1:p.Ser693=
XM_011528010.2:c.2380A= XP_011526312.1:p.Ser794=
XR_001753685.2:n.2792A=
XR_001753686.2:n.2435A=
NM_000527.5:c.2458A= MANE Select NP_000518.1:p.Ser820=
NM_001195798.2:c.2458A= NP_001182727.1:p.Ser820=
NM_001195799.2:c.2335A= NP_001182728.1:p.Ser779=
NM_001195800.2:c.1954A= NP_001182729.1:p.Ser652=
NM_001195803.2:c.1924A= NP_001182732.1:p.Ser642=