Canonical Allele Identifier: CA404096695
Gene: LDLR HGNC NCBI

Linked Data

COSMIC: COSM710119

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128029G>A , CM000681.2:g.11128029G>A GRCh38
NC_000019.9:g.11238705G>A , CM000681.1:g.11238705G>A GRCh37
NC_000019.8:g.11099705G>A NCBI36
NG_009060.1:g.43649G>A , LRG_274:g.43649G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2591G>A ENSP00000252444.6:p.Arg864Lys
ENST00000559340.2:c.*402G>A ENSP00000453696.2:n.*402G>A
ENST00000560467.2:c.2213G>A ENSP00000453513.2:p.Arg738Lys
ENST00000558518.6:c.2333G>A MANE Select ENSP00000454071.1:p.Arg778Lys
ENST00000252444.9:c.2587G>A
ENST00000455727.6:c.1829G>A ENSP00000397829.2:p.Arg610Lys
ENST00000535915.5:c.2210G>A ENSP00000440520.1:p.Arg737Lys
ENST00000545707.5:c.1799G>A ENSP00000437639.1:p.Arg600Lys
ENST00000557933.5:c.2333G>A ENSP00000453557.1:p.Arg778Lys
ENST00000558013.5:c.2333G>A ENSP00000453346.1:p.Arg778Lys
ENST00000558518.5:c.2333G>A ENSP00000454071.1:p.Arg778Lys
ENST00000560628.1:n.108+375G>A
NM_000527.4:c.2333G>A , LRG_274t1:c.2333G>A NP_000518.1:p.Arg778Lys
NM_001195798.1:c.2333G>A NP_001182727.1:p.Arg778Lys
NM_001195799.1:c.2210G>A NP_001182728.1:p.Arg737Lys
NM_001195800.1:c.1829G>A NP_001182729.1:p.Arg610Lys
NM_001195803.1:c.1799G>A NP_001182732.1:p.Arg600Lys
XM_011528010.1:c.2312-1484G>A XP_011526312.1:n.2312-1484G>A
XM_011528011.1:c.1952G>A XP_011526313.1:p.Arg651Lys
XR_244074.2:n.2343G>A
XM_011528010.2:c.2312-1484G>A XP_011526312.1:n.2312-1484G>A
XR_001753685.2:n.2667G>A
XR_001753686.2:n.2310G>A
NM_000527.5:c.2333G>A MANE Select NP_000518.1:p.Arg778Lys
NM_001195798.2:c.2333G>A NP_001182727.1:p.Arg778Lys
NM_001195799.2:c.2210G>A NP_001182728.1:p.Arg737Lys
NM_001195800.2:c.1829G>A NP_001182729.1:p.Arg610Lys
NM_001195803.2:c.1799G>A NP_001182732.1:p.Arg600Lys