Canonical Allele Identifier: CA2322777210
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123246C= , CM000681.2:g.11123246C= GRCh38
NC_000019.9:g.11233922C= , CM000681.1:g.11233922C= GRCh37
NC_000019.8:g.11094922C= NCBI36
NG_009060.1:g.38866C= , LRG_274:g.38866C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2471C= ENSP00000252444.6:p.Thr824=
ENST00000559340.2:c.*282C= ENSP00000453696.2:n.*282C=
ENST00000560467.2:c.2093C= ENSP00000453513.2:p.Thr698=
ENST00000558518.6:c.2213C= MANE Select ENSP00000454071.1:p.Thr738=
ENST00000252444.9:c.2467C=
ENST00000455727.6:c.1709C= ENSP00000397829.2:p.Thr570=
ENST00000535915.5:c.2090C= ENSP00000440520.1:p.Thr697=
ENST00000545707.5:c.1679C= ENSP00000437639.1:p.Thr560=
ENST00000557933.5:c.2213C= ENSP00000453557.1:p.Thr738=
ENST00000558013.5:c.2213C= ENSP00000453346.1:p.Thr738=
ENST00000558518.5:c.2213C= ENSP00000454071.1:p.Thr738=
NM_000527.4:c.2213C= , LRG_274t1:c.2213C= NP_000518.1:p.Thr738=
NM_001195798.1:c.2213C= NP_001182727.1:p.Thr738=
NM_001195799.1:c.2090C= NP_001182728.1:p.Thr697=
NM_001195800.1:c.1709C= NP_001182729.1:p.Thr570=
NM_001195803.1:c.1679C= NP_001182732.1:p.Thr560=
XM_011528010.1:c.2213C= XP_011526312.1:p.Thr738=
XM_011528011.1:c.1832C= XP_011526313.1:p.Thr611=
XR_244074.2:n.2223C=
XM_011528010.2:c.2213C= XP_011526312.1:p.Thr738=
XR_001753685.2:n.2547C=
XR_001753686.2:n.2190C=
NM_000527.5:c.2213C= MANE Select NP_000518.1:p.Thr738=
NM_001195798.2:c.2213C= NP_001182727.1:p.Thr738=
NM_001195799.2:c.2090C= NP_001182728.1:p.Thr697=
NM_001195800.2:c.1709C= NP_001182729.1:p.Thr570=
NM_001195803.2:c.1679C= NP_001182732.1:p.Thr560=