Canonical Allele Identifier: CA2322780311
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129627A= , CM000681.2:g.11129627A= GRCh38
NC_000019.9:g.11240303A= , CM000681.1:g.11240303A= GRCh37
NC_000019.8:g.11101303A= NCBI36
NG_009060.1:g.45247A= , LRG_274:g.45247A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2762A= ENSP00000252444.6:p.Glu921=
ENST00000559340.2:c.*573A= ENSP00000453696.2:n.*573A=
ENST00000560467.2:c.2384A= ENSP00000453513.2:p.Glu795=
ENST00000558518.6:c.2504A= MANE Select ENSP00000454071.1:p.Glu835=
ENST00000252444.9:c.2758A=
ENST00000455727.6:c.2000A= ENSP00000397829.2:p.Glu667=
ENST00000535915.5:c.2381A= ENSP00000440520.1:p.Glu794=
ENST00000545707.5:c.1970A= ENSP00000437639.1:p.Glu657=
ENST00000557933.5:c.2566A= ENSP00000453557.1:p.Arg856=
ENST00000558013.5:c.2504A= ENSP00000453346.1:p.Glu835=
ENST00000558518.5:c.2504A= ENSP00000454071.1:p.Glu835=
ENST00000560628.1:n.108+1973A=
NM_000527.4:c.2504A= , LRG_274t1:c.2504A= NP_000518.1:p.Glu835=
NM_001195798.1:c.2504A= NP_001182727.1:p.Glu835=
NM_001195799.1:c.2381A= NP_001182728.1:p.Glu794=
NM_001195800.1:c.2000A= NP_001182729.1:p.Glu667=
NM_001195803.1:c.1970A= NP_001182732.1:p.Glu657=
XM_011528010.1:c.2426A= XP_011526312.1:p.Glu809=
XM_011528011.1:c.2123A= XP_011526313.1:p.Glu708=
XM_011528010.2:c.2426A= XP_011526312.1:p.Glu809=
XR_001753685.2:n.2838A=
XR_001753686.2:n.2481A=
NM_000527.5:c.2504A= MANE Select NP_000518.1:p.Glu835=
NM_001195798.2:c.2504A= NP_001182727.1:p.Glu835=
NM_001195799.2:c.2381A= NP_001182728.1:p.Glu794=
NM_001195800.2:c.2000A= NP_001182729.1:p.Glu667=
NM_001195803.2:c.1970A= NP_001182732.1:p.Glu657=