Canonical Allele Identifier: CA2322775395
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120168T= , CM000681.2:g.11120168T= GRCh38
NC_000019.9:g.11230844T= , CM000681.1:g.11230844T= GRCh37
NC_000019.8:g.11091844T= NCBI36
NG_009060.1:g.35788T= , LRG_274:g.35788T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2180T= ENSP00000252444.6:p.Leu727=
ENST00000559340.2:c.1782T= ENSP00000453696.2:p.Leu594=
ENST00000560467.2:c.1802T= ENSP00000453513.2:p.Leu601=
ENST00000558518.6:c.1922T= MANE Select ENSP00000454071.1:p.Leu641=
ENST00000252444.9:c.2176T=
ENST00000455727.6:c.1418T= ENSP00000397829.2:p.Leu473=
ENST00000535915.5:c.1799T= ENSP00000440520.1:p.Leu600=
ENST00000545707.5:c.1541T= ENSP00000437639.1:p.Leu514=
ENST00000557933.5:c.1922T= ENSP00000453557.1:p.Leu641=
ENST00000558013.5:c.1922T= ENSP00000453346.1:p.Leu641=
ENST00000558518.5:c.1922T= ENSP00000454071.1:p.Leu641=
ENST00000559340.1:c.503T=
NM_000527.4:c.1922T= , LRG_274t1:c.1922T= NP_000518.1:p.Leu641=
NM_001195798.1:c.1922T= NP_001182727.1:p.Leu641=
NM_001195799.1:c.1799T= NP_001182728.1:p.Leu600=
NM_001195800.1:c.1418T= NP_001182729.1:p.Leu473=
NM_001195803.1:c.1541T= NP_001182732.1:p.Leu514=
XM_011528010.1:c.1922T= XP_011526312.1:p.Leu641=
XM_011528011.1:c.1541T= XP_011526313.1:p.Leu514=
XR_244074.2:n.1932T=
XM_011528010.2:c.1922T= XP_011526312.1:p.Leu641=
XR_001753685.2:n.2039T=
XR_001753686.2:n.1899T=
NM_000527.5:c.1922T= MANE Select NP_000518.1:p.Leu641=
NM_001195798.2:c.1922T= NP_001182727.1:p.Leu641=
NM_001195799.2:c.1799T= NP_001182728.1:p.Leu600=
NM_001195800.2:c.1418T= NP_001182729.1:p.Leu473=
NM_001195803.2:c.1541T= NP_001182732.1:p.Leu514=