Canonical Allele Identifier: CA2322777252
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123309T= , CM000681.2:g.11123309T= GRCh38
NC_000019.9:g.11233985T= , CM000681.1:g.11233985T= GRCh37
NC_000019.8:g.11094985T= NCBI36
NG_009060.1:g.38929T= , LRG_274:g.38929T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2534T= ENSP00000252444.6:p.Leu845=
ENST00000559340.2:c.*345T= ENSP00000453696.2:n.*345T=
ENST00000560467.2:c.2156T= ENSP00000453513.2:p.Leu719=
ENST00000558518.6:c.2276T= MANE Select ENSP00000454071.1:p.Leu759=
ENST00000252444.9:c.2530T=
ENST00000455727.6:c.1772T= ENSP00000397829.2:p.Leu591=
ENST00000535915.5:c.2153T= ENSP00000440520.1:p.Leu718=
ENST00000545707.5:c.1742T= ENSP00000437639.1:p.Leu581=
ENST00000557933.5:c.2276T= ENSP00000453557.1:p.Leu759=
ENST00000558013.5:c.2276T= ENSP00000453346.1:p.Leu759=
ENST00000558518.5:c.2276T= ENSP00000454071.1:p.Leu759=
NM_000527.4:c.2276T= , LRG_274t1:c.2276T= NP_000518.1:p.Leu759=
NM_001195798.1:c.2276T= NP_001182727.1:p.Leu759=
NM_001195799.1:c.2153T= NP_001182728.1:p.Leu718=
NM_001195800.1:c.1772T= NP_001182729.1:p.Leu591=
NM_001195803.1:c.1742T= NP_001182732.1:p.Leu581=
XM_011528010.1:c.2276T= XP_011526312.1:p.Leu759=
XM_011528011.1:c.1895T= XP_011526313.1:p.Leu632=
XR_244074.2:n.2286T=
XM_011528010.2:c.2276T= XP_011526312.1:p.Leu759=
XR_001753685.2:n.2610T=
XR_001753686.2:n.2253T=
NM_000527.5:c.2276T= MANE Select NP_000518.1:p.Leu759=
NM_001195798.2:c.2276T= NP_001182727.1:p.Leu759=
NM_001195799.2:c.2153T= NP_001182728.1:p.Leu718=
NM_001195800.2:c.1772T= NP_001182729.1:p.Leu591=
NM_001195803.2:c.1742T= NP_001182732.1:p.Leu581=