Canonical Allele Identifier: CA2322780317
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129635A= , CM000681.2:g.11129635A= GRCh38
NC_000019.9:g.11240311A= , CM000681.1:g.11240311A= GRCh37
NC_000019.8:g.11101311A= NCBI36
NG_009060.1:g.45255A= , LRG_274:g.45255A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2770A= ENSP00000252444.6:p.Ile924=
ENST00000559340.2:c.*581A= ENSP00000453696.2:n.*581A=
ENST00000560467.2:c.2392A= ENSP00000453513.2:p.Ile798=
ENST00000558518.6:c.2512A= MANE Select ENSP00000454071.1:p.Ile838=
ENST00000252444.9:c.2766A=
ENST00000455727.6:c.2008A= ENSP00000397829.2:p.Ile670=
ENST00000535915.5:c.2389A= ENSP00000440520.1:p.Ile797=
ENST00000545707.5:c.1978A= ENSP00000437639.1:p.Ile660=
ENST00000557933.5:c.2574A= ENSP00000453557.1:p.Thr858=
ENST00000558013.5:c.2512A= ENSP00000453346.1:p.Ile838=
ENST00000558518.5:c.2512A= ENSP00000454071.1:p.Ile838=
ENST00000560628.1:n.108+1981A=
NM_000527.4:c.2512A= , LRG_274t1:c.2512A= NP_000518.1:p.Ile838=
NM_001195798.1:c.2512A= NP_001182727.1:p.Ile838=
NM_001195799.1:c.2389A= NP_001182728.1:p.Ile797=
NM_001195800.1:c.2008A= NP_001182729.1:p.Ile670=
NM_001195803.1:c.1978A= NP_001182732.1:p.Ile660=
XM_011528010.1:c.2434A= XP_011526312.1:p.Ile812=
XM_011528011.1:c.2131A= XP_011526313.1:p.Ile711=
XM_011528010.2:c.2434A= XP_011526312.1:p.Ile812=
XR_001753685.2:n.2846A=
XR_001753686.2:n.2489A=
NM_000527.5:c.2512A= MANE Select NP_000518.1:p.Ile838=
NM_001195798.2:c.2512A= NP_001182727.1:p.Ile838=
NM_001195799.2:c.2389A= NP_001182728.1:p.Ile797=
NM_001195800.2:c.2008A= NP_001182729.1:p.Ile670=
NM_001195803.2:c.1978A= NP_001182732.1:p.Ile660=