Canonical Allele Identifier: CA404095426
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123293G>C , CM000681.2:g.11123293G>C GRCh38
NC_000019.9:g.11233969G>C , CM000681.1:g.11233969G>C GRCh37
NC_000019.8:g.11094969G>C NCBI36
NG_009060.1:g.38913G>C , LRG_274:g.38913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2518G>C ENSP00000252444.6:p.Gly840Arg
ENST00000559340.2:c.*329G>C ENSP00000453696.2:n.*329G>C
ENST00000560467.2:c.2140G>C ENSP00000453513.2:p.Gly714Arg
ENST00000558518.6:c.2260G>C MANE Select ENSP00000454071.1:p.Gly754Arg
ENST00000252444.9:c.2514G>C
ENST00000455727.6:c.1756G>C ENSP00000397829.2:p.Gly586Arg
ENST00000535915.5:c.2137G>C ENSP00000440520.1:p.Gly713Arg
ENST00000545707.5:c.1726G>C ENSP00000437639.1:p.Gly576Arg
ENST00000557933.5:c.2260G>C ENSP00000453557.1:p.Gly754Arg
ENST00000558013.5:c.2260G>C ENSP00000453346.1:p.Gly754Arg
ENST00000558518.5:c.2260G>C ENSP00000454071.1:p.Gly754Arg
NM_000527.4:c.2260G>C , LRG_274t1:c.2260G>C NP_000518.1:p.Gly754Arg
NM_001195798.1:c.2260G>C NP_001182727.1:p.Gly754Arg
NM_001195799.1:c.2137G>C NP_001182728.1:p.Gly713Arg
NM_001195800.1:c.1756G>C NP_001182729.1:p.Gly586Arg
NM_001195803.1:c.1726G>C NP_001182732.1:p.Gly576Arg
XM_011528010.1:c.2260G>C XP_011526312.1:p.Gly754Arg
XM_011528011.1:c.1879G>C XP_011526313.1:p.Gly627Arg
XR_244074.2:n.2270G>C
XM_011528010.2:c.2260G>C XP_011526312.1:p.Gly754Arg
XR_001753685.2:n.2594G>C
XR_001753686.2:n.2237G>C
NM_000527.5:c.2260G>C MANE Select NP_000518.1:p.Gly754Arg
NM_001195798.2:c.2260G>C NP_001182727.1:p.Gly754Arg
NM_001195799.2:c.2137G>C NP_001182728.1:p.Gly713Arg
NM_001195800.2:c.1756G>C NP_001182729.1:p.Gly586Arg
NM_001195803.2:c.1726G>C NP_001182732.1:p.Gly576Arg