Canonical Allele Identifier: CA2322780318
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129637T= , CM000681.2:g.11129637T= GRCh38
NC_000019.9:g.11240313T= , CM000681.1:g.11240313T= GRCh37
NC_000019.8:g.11101313T= NCBI36
NG_009060.1:g.45257T= , LRG_274:g.45257T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2772T= ENSP00000252444.6:p.Ile924=
ENST00000559340.2:c.*583T= ENSP00000453696.2:n.*583T=
ENST00000560467.2:c.2394T= ENSP00000453513.2:p.Ile798=
ENST00000558518.6:c.2514T= MANE Select ENSP00000454071.1:p.Ile838=
ENST00000252444.9:c.2768T=
ENST00000455727.6:c.2010T= ENSP00000397829.2:p.Ile670=
ENST00000535915.5:c.2391T= ENSP00000440520.1:p.Ile797=
ENST00000545707.5:c.1980T= ENSP00000437639.1:p.Ile660=
ENST00000557933.5:c.2576T= ENSP00000453557.1:p.Phe859=
ENST00000558013.5:c.2514T= ENSP00000453346.1:p.Ile838=
ENST00000558518.5:c.2514T= ENSP00000454071.1:p.Ile838=
ENST00000560628.1:n.108+1983T=
NM_000527.4:c.2514T= , LRG_274t1:c.2514T= NP_000518.1:p.Ile838=
NM_001195798.1:c.2514T= NP_001182727.1:p.Ile838=
NM_001195799.1:c.2391T= NP_001182728.1:p.Ile797=
NM_001195800.1:c.2010T= NP_001182729.1:p.Ile670=
NM_001195803.1:c.1980T= NP_001182732.1:p.Ile660=
XM_011528010.1:c.2436T= XP_011526312.1:p.Ile812=
XM_011528011.1:c.2133T= XP_011526313.1:p.Ile711=
XM_011528010.2:c.2436T= XP_011526312.1:p.Ile812=
XR_001753685.2:n.2848T=
XR_001753686.2:n.2491T=
NM_000527.5:c.2514T= MANE Select NP_000518.1:p.Ile838=
NM_001195798.2:c.2514T= NP_001182727.1:p.Ile838=
NM_001195799.2:c.2391T= NP_001182728.1:p.Ile797=
NM_001195800.2:c.2010T= NP_001182729.1:p.Ile670=
NM_001195803.2:c.1980T= NP_001182732.1:p.Ile660=