Canonical Allele Identifier: CA404095050
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1352511871

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123243G>T , CM000681.2:g.11123243G>T GRCh38
NC_000019.9:g.11233919G>T , CM000681.1:g.11233919G>T GRCh37
NC_000019.8:g.11094919G>T NCBI36
NG_009060.1:g.38863G>T , LRG_274:g.38863G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2468G>T ENSP00000252444.6:p.Arg823Met
ENST00000559340.2:c.*279G>T ENSP00000453696.2:n.*279G>T
ENST00000560467.2:c.2090G>T ENSP00000453513.2:p.Arg697Met
ENST00000558518.6:c.2210G>T MANE Select ENSP00000454071.1:p.Arg737Met
ENST00000252444.9:c.2464G>T
ENST00000455727.6:c.1706G>T ENSP00000397829.2:p.Arg569Met
ENST00000535915.5:c.2087G>T ENSP00000440520.1:p.Arg696Met
ENST00000545707.5:c.1676G>T ENSP00000437639.1:p.Arg559Met
ENST00000557933.5:c.2210G>T ENSP00000453557.1:p.Arg737Met
ENST00000558013.5:c.2210G>T ENSP00000453346.1:p.Arg737Met
ENST00000558518.5:c.2210G>T ENSP00000454071.1:p.Arg737Met
NM_000527.4:c.2210G>T , LRG_274t1:c.2210G>T NP_000518.1:p.Arg737Met
NM_001195798.1:c.2210G>T NP_001182727.1:p.Arg737Met
NM_001195799.1:c.2087G>T NP_001182728.1:p.Arg696Met
NM_001195800.1:c.1706G>T NP_001182729.1:p.Arg569Met
NM_001195803.1:c.1676G>T NP_001182732.1:p.Arg559Met
XM_011528010.1:c.2210G>T XP_011526312.1:p.Arg737Met
XM_011528011.1:c.1829G>T XP_011526313.1:p.Arg610Met
XR_244074.2:n.2220G>T
XM_011528010.2:c.2210G>T XP_011526312.1:p.Arg737Met
XR_001753685.2:n.2544G>T
XR_001753686.2:n.2187G>T
NM_000527.5:c.2210G>T MANE Select NP_000518.1:p.Arg737Met
NM_001195798.2:c.2210G>T NP_001182727.1:p.Arg737Met
NM_001195799.2:c.2087G>T NP_001182728.1:p.Arg696Met
NM_001195800.2:c.1706G>T NP_001182729.1:p.Arg569Met
NM_001195803.2:c.1676G>T NP_001182732.1:p.Arg559Met