Canonical Allele Identifier: CA404095469
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123296G>A , CM000681.2:g.11123296G>A GRCh38
NC_000019.9:g.11233972G>A , CM000681.1:g.11233972G>A GRCh37
NC_000019.8:g.11094972G>A NCBI36
NG_009060.1:g.38916G>A , LRG_274:g.38916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2521G>A ENSP00000252444.6:p.Ala841Thr
ENST00000559340.2:c.*332G>A ENSP00000453696.2:n.*332G>A
ENST00000560467.2:c.2143G>A ENSP00000453513.2:p.Ala715Thr
ENST00000558518.6:c.2263G>A MANE Select ENSP00000454071.1:p.Ala755Thr
ENST00000252444.9:c.2517G>A
ENST00000455727.6:c.1759G>A ENSP00000397829.2:p.Ala587Thr
ENST00000535915.5:c.2140G>A ENSP00000440520.1:p.Ala714Thr
ENST00000545707.5:c.1729G>A ENSP00000437639.1:p.Ala577Thr
ENST00000557933.5:c.2263G>A ENSP00000453557.1:p.Ala755Thr
ENST00000558013.5:c.2263G>A ENSP00000453346.1:p.Ala755Thr
ENST00000558518.5:c.2263G>A ENSP00000454071.1:p.Ala755Thr
NM_000527.4:c.2263G>A , LRG_274t1:c.2263G>A NP_000518.1:p.Ala755Thr
NM_001195798.1:c.2263G>A NP_001182727.1:p.Ala755Thr
NM_001195799.1:c.2140G>A NP_001182728.1:p.Ala714Thr
NM_001195800.1:c.1759G>A NP_001182729.1:p.Ala587Thr
NM_001195803.1:c.1729G>A NP_001182732.1:p.Ala577Thr
XM_011528010.1:c.2263G>A XP_011526312.1:p.Ala755Thr
XM_011528011.1:c.1882G>A XP_011526313.1:p.Ala628Thr
XR_244074.2:n.2273G>A
XM_011528010.2:c.2263G>A XP_011526312.1:p.Ala755Thr
XR_001753685.2:n.2597G>A
XR_001753686.2:n.2240G>A
NM_000527.5:c.2263G>A MANE Select NP_000518.1:p.Ala755Thr
NM_001195798.2:c.2263G>A NP_001182727.1:p.Ala755Thr
NM_001195799.2:c.2140G>A NP_001182728.1:p.Ala714Thr
NM_001195800.2:c.1759G>A NP_001182729.1:p.Ala587Thr
NM_001195803.2:c.1729G>A NP_001182732.1:p.Ala577Thr