Canonical Allele Identifier: CA404096838
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128059G>T , CM000681.2:g.11128059G>T GRCh38
NC_000019.9:g.11238735G>T , CM000681.1:g.11238735G>T GRCh37
NC_000019.8:g.11099735G>T NCBI36
NG_009060.1:g.43679G>T , LRG_274:g.43679G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2621G>T ENSP00000252444.6:p.Arg874Met
ENST00000559340.2:c.*432G>T ENSP00000453696.2:n.*432G>T
ENST00000560467.2:c.2243G>T ENSP00000453513.2:p.Arg748Met
ENST00000558518.6:c.2363G>T MANE Select ENSP00000454071.1:p.Arg788Met
ENST00000252444.9:c.2617G>T
ENST00000455727.6:c.1859G>T ENSP00000397829.2:p.Arg620Met
ENST00000535915.5:c.2240G>T ENSP00000440520.1:p.Arg747Met
ENST00000545707.5:c.1829G>T ENSP00000437639.1:p.Arg610Met
ENST00000557933.5:c.2363G>T ENSP00000453557.1:p.Arg788Met
ENST00000558013.5:c.2363G>T ENSP00000453346.1:p.Arg788Met
ENST00000558518.5:c.2363G>T ENSP00000454071.1:p.Arg788Met
ENST00000560628.1:n.108+405G>T
NM_000527.4:c.2363G>T , LRG_274t1:c.2363G>T NP_000518.1:p.Arg788Met
NM_001195798.1:c.2363G>T NP_001182727.1:p.Arg788Met
NM_001195799.1:c.2240G>T NP_001182728.1:p.Arg747Met
NM_001195800.1:c.1859G>T NP_001182729.1:p.Arg620Met
NM_001195803.1:c.1829G>T NP_001182732.1:p.Arg610Met
XM_011528010.1:c.2312-1454G>T XP_011526312.1:n.2312-1454G>T
XM_011528011.1:c.1982G>T XP_011526313.1:p.Arg661Met
XR_244074.2:n.2373G>T
XM_011528010.2:c.2312-1454G>T XP_011526312.1:n.2312-1454G>T
XR_001753685.2:n.2697G>T
XR_001753686.2:n.2340G>T
NM_000527.5:c.2363G>T MANE Select NP_000518.1:p.Arg788Met
NM_001195798.2:c.2363G>T NP_001182727.1:p.Arg788Met
NM_001195799.2:c.2240G>T NP_001182728.1:p.Arg747Met
NM_001195800.2:c.1859G>T NP_001182729.1:p.Arg620Met
NM_001195803.2:c.1829G>T NP_001182732.1:p.Arg610Met