Canonical Allele Identifier: CA2322771881
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113544T= , CM000681.2:g.11113544T= GRCh38
NC_000019.9:g.11224220T= , CM000681.1:g.11224220T= GRCh37
NC_000019.8:g.11085220T= NCBI36
NG_009060.1:g.29164T= , LRG_274:g.29164T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1626T= ENSP00000252444.6:p.Leu542=
ENST00000559340.2:c.1368T= ENSP00000453696.2:p.Leu456=
ENST00000560467.2:c.1248T= ENSP00000453513.2:p.Leu416=
ENST00000558518.6:c.1368T= MANE Select ENSP00000454071.1:p.Leu456=
ENST00000252444.9:c.1622T=
ENST00000455727.6:c.864T= ENSP00000397829.2:p.Leu288=
ENST00000535915.5:c.1245T= ENSP00000440520.1:p.Leu415=
ENST00000545707.5:c.987T= ENSP00000437639.1:p.Leu329=
ENST00000557933.5:c.1368T= ENSP00000453557.1:p.Leu456=
ENST00000558013.5:c.1368T= ENSP00000453346.1:p.Leu456=
ENST00000558518.5:c.1368T= ENSP00000454071.1:p.Leu456=
ENST00000559340.1:c.89T=
ENST00000560467.1:c.848T=
NM_000527.4:c.1368T= , LRG_274t1:c.1368T= NP_000518.1:p.Leu456=
NM_001195798.1:c.1368T= NP_001182727.1:p.Leu456=
NM_001195799.1:c.1245T= NP_001182728.1:p.Leu415=
NM_001195800.1:c.864T= NP_001182729.1:p.Leu288=
NM_001195803.1:c.987T= NP_001182732.1:p.Leu329=
XM_011528010.1:c.1368T= XP_011526312.1:p.Leu456=
XM_011528011.1:c.987T= XP_011526313.1:p.Leu329=
XR_244074.2:n.1518T=
XM_011528010.2:c.1368T= XP_011526312.1:p.Leu456=
XR_001753685.2:n.1485T=
XR_001753686.2:n.1485T=
NM_000527.5:c.1368T= MANE Select NP_000518.1:p.Leu456=
NM_001195798.2:c.1368T= NP_001182727.1:p.Leu456=
NM_001195799.2:c.1245T= NP_001182728.1:p.Leu415=
NM_001195800.2:c.864T= NP_001182729.1:p.Leu288=
NM_001195803.2:c.987T= NP_001182732.1:p.Leu329=