Canonical Allele Identifier: CA2322777260
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123322G= , CM000681.2:g.11123322G= GRCh38
NC_000019.9:g.11233998G= , CM000681.1:g.11233998G= GRCh37
NC_000019.8:g.11094998G= NCBI36
NG_009060.1:g.38942G= , LRG_274:g.38942G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2547G= ENSP00000252444.6:p.Glu849=
ENST00000559340.2:c.*358G= ENSP00000453696.2:n.*358G=
ENST00000560467.2:c.2169G= ENSP00000453513.2:p.Glu723=
ENST00000558518.6:c.2289G= MANE Select ENSP00000454071.1:p.Glu763=
ENST00000252444.9:c.2543G=
ENST00000455727.6:c.1785G= ENSP00000397829.2:p.Glu595=
ENST00000535915.5:c.2166G= ENSP00000440520.1:p.Glu722=
ENST00000545707.5:c.1755G= ENSP00000437639.1:p.Glu585=
ENST00000557933.5:c.2289G= ENSP00000453557.1:p.Glu763=
ENST00000558013.5:c.2289G= ENSP00000453346.1:p.Glu763=
ENST00000558518.5:c.2289G= ENSP00000454071.1:p.Glu763=
NM_000527.4:c.2289G= , LRG_274t1:c.2289G= NP_000518.1:p.Glu763=
NM_001195798.1:c.2289G= NP_001182727.1:p.Glu763=
NM_001195799.1:c.2166G= NP_001182728.1:p.Glu722=
NM_001195800.1:c.1785G= NP_001182729.1:p.Glu595=
NM_001195803.1:c.1755G= NP_001182732.1:p.Glu585=
XM_011528010.1:c.2289G= XP_011526312.1:p.Glu763=
XM_011528011.1:c.1908G= XP_011526313.1:p.Glu636=
XR_244074.2:n.2299G=
XM_011528010.2:c.2289G= XP_011526312.1:p.Glu763=
XR_001753685.2:n.2623G=
XR_001753686.2:n.2266G=
NM_000527.5:c.2289G= MANE Select NP_000518.1:p.Glu763=
NM_001195798.2:c.2289G= NP_001182727.1:p.Glu763=
NM_001195799.2:c.2166G= NP_001182728.1:p.Glu722=
NM_001195800.2:c.1785G= NP_001182729.1:p.Glu595=
NM_001195803.2:c.1755G= NP_001182732.1:p.Glu585=