Canonical Allele Identifier: CA2322780260
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129533C= , CM000681.2:g.11129533C= GRCh38
NC_000019.9:g.11240209C= , CM000681.1:g.11240209C= GRCh37
NC_000019.8:g.11101209C= NCBI36
NG_009060.1:g.45153C= , LRG_274:g.45153C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2668C= ENSP00000252444.6:p.Leu890=
ENST00000559340.2:c.*479C= ENSP00000453696.2:n.*479C=
ENST00000560467.2:c.2290C= ENSP00000453513.2:p.Leu764=
ENST00000558518.6:c.2410C= MANE Select ENSP00000454071.1:p.Leu804=
ENST00000252444.9:c.2664C=
ENST00000455727.6:c.1906C= ENSP00000397829.2:p.Leu636=
ENST00000535915.5:c.2287C= ENSP00000440520.1:p.Leu763=
ENST00000545707.5:c.1876C= ENSP00000437639.1:p.Leu626=
ENST00000557933.5:c.2472C= ENSP00000453557.1:p.Ala824=
ENST00000558013.5:c.2410C= ENSP00000453346.1:p.Leu804=
ENST00000558518.5:c.2410C= ENSP00000454071.1:p.Leu804=
ENST00000560628.1:n.108+1879C=
NM_000527.4:c.2410C= , LRG_274t1:c.2410C= NP_000518.1:p.Leu804=
NM_001195798.1:c.2410C= NP_001182727.1:p.Leu804=
NM_001195799.1:c.2287C= NP_001182728.1:p.Leu763=
NM_001195800.1:c.1906C= NP_001182729.1:p.Leu636=
NM_001195803.1:c.1876C= NP_001182732.1:p.Leu626=
XM_011528010.1:c.2332C= XP_011526312.1:p.Leu778=
XM_011528011.1:c.2029C= XP_011526313.1:p.Leu677=
XR_244074.2:n.2420C=
XM_011528010.2:c.2332C= XP_011526312.1:p.Leu778=
XR_001753685.2:n.2744C=
XR_001753686.2:n.2387C=
NM_000527.5:c.2410C= MANE Select NP_000518.1:p.Leu804=
NM_001195798.2:c.2410C= NP_001182727.1:p.Leu804=
NM_001195799.2:c.2287C= NP_001182728.1:p.Leu763=
NM_001195800.2:c.1906C= NP_001182729.1:p.Leu636=
NM_001195803.2:c.1876C= NP_001182732.1:p.Leu626=