Canonical Allele Identifier: CA404096694
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128028A>T , CM000681.2:g.11128028A>T GRCh38
NC_000019.9:g.11238704A>T , CM000681.1:g.11238704A>T GRCh37
NC_000019.8:g.11099704A>T NCBI36
NG_009060.1:g.43648A>T , LRG_274:g.43648A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2590A>T ENSP00000252444.6:p.Arg864Ter
ENST00000559340.2:c.*401A>T ENSP00000453696.2:n.*401A>T
ENST00000560467.2:c.2212A>T ENSP00000453513.2:p.Arg738Ter
ENST00000558518.6:c.2332A>T MANE Select ENSP00000454071.1:p.Arg778Ter
ENST00000252444.9:c.2586A>T
ENST00000455727.6:c.1828A>T ENSP00000397829.2:p.Arg610Ter
ENST00000535915.5:c.2209A>T ENSP00000440520.1:p.Arg737Ter
ENST00000545707.5:c.1798A>T ENSP00000437639.1:p.Arg600Ter
ENST00000557933.5:c.2332A>T ENSP00000453557.1:p.Arg778Ter
ENST00000558013.5:c.2332A>T ENSP00000453346.1:p.Arg778Ter
ENST00000558518.5:c.2332A>T ENSP00000454071.1:p.Arg778Ter
ENST00000560628.1:n.108+374A>T
NM_000527.4:c.2332A>T , LRG_274t1:c.2332A>T NP_000518.1:p.Arg778Ter
NM_001195798.1:c.2332A>T NP_001182727.1:p.Arg778Ter
NM_001195799.1:c.2209A>T NP_001182728.1:p.Arg737Ter
NM_001195800.1:c.1828A>T NP_001182729.1:p.Arg610Ter
NM_001195803.1:c.1798A>T NP_001182732.1:p.Arg600Ter
XM_011528010.1:c.2312-1485A>T XP_011526312.1:n.2312-1485A>T
XM_011528011.1:c.1951A>T XP_011526313.1:p.Arg651Ter
XR_244074.2:n.2342A>T
XM_011528010.2:c.2312-1485A>T XP_011526312.1:n.2312-1485A>T
XR_001753685.2:n.2666A>T
XR_001753686.2:n.2309A>T
NM_000527.5:c.2332A>T MANE Select NP_000518.1:p.Arg778Ter
NM_001195798.2:c.2332A>T NP_001182727.1:p.Arg778Ter
NM_001195799.2:c.2209A>T NP_001182728.1:p.Arg737Ter
NM_001195800.2:c.1828A>T NP_001182729.1:p.Arg610Ter
NM_001195803.2:c.1798A>T NP_001182732.1:p.Arg600Ter