Canonical Allele Identifier: CA404098767
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129561G>T , CM000681.2:g.11129561G>T GRCh38
NC_000019.9:g.11240237G>T , CM000681.1:g.11240237G>T GRCh37
NC_000019.8:g.11101237G>T NCBI36
NG_009060.1:g.45181G>T , LRG_274:g.45181G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2696G>T ENSP00000252444.6:p.Trp899Leu
ENST00000559340.2:c.*507G>T ENSP00000453696.2:n.*507G>T
ENST00000560467.2:c.2318G>T ENSP00000453513.2:p.Trp773Leu
ENST00000558518.6:c.2438G>T MANE Select ENSP00000454071.1:p.Trp813Leu
ENST00000252444.9:c.2692G>T
ENST00000455727.6:c.1934G>T ENSP00000397829.2:p.Trp645Leu
ENST00000535915.5:c.2315G>T ENSP00000440520.1:p.Trp772Leu
ENST00000545707.5:c.1904G>T ENSP00000437639.1:p.Trp635Leu
ENST00000557933.5:c.2500G>T ENSP00000453557.1:p.Gly834Cys
ENST00000558013.5:c.2438G>T ENSP00000453346.1:p.Trp813Leu
ENST00000558518.5:c.2438G>T ENSP00000454071.1:p.Trp813Leu
ENST00000560628.1:n.108+1907G>T
NM_000527.4:c.2438G>T , LRG_274t1:c.2438G>T NP_000518.1:p.Trp813Leu
NM_001195798.1:c.2438G>T NP_001182727.1:p.Trp813Leu
NM_001195799.1:c.2315G>T NP_001182728.1:p.Trp772Leu
NM_001195800.1:c.1934G>T NP_001182729.1:p.Trp645Leu
NM_001195803.1:c.1904G>T NP_001182732.1:p.Trp635Leu
XM_011528010.1:c.2360G>T XP_011526312.1:p.Trp787Leu
XM_011528011.1:c.2057G>T XP_011526313.1:p.Trp686Leu
XR_244074.2:n.2448G>T
XM_011528010.2:c.2360G>T XP_011526312.1:p.Trp787Leu
XR_001753685.2:n.2772G>T
XR_001753686.2:n.2415G>T
NM_000527.5:c.2438G>T MANE Select NP_000518.1:p.Trp813Leu
NM_001195798.2:c.2438G>T NP_001182727.1:p.Trp813Leu
NM_001195799.2:c.2315G>T NP_001182728.1:p.Trp772Leu
NM_001195800.2:c.1934G>T NP_001182729.1:p.Trp645Leu
NM_001195803.2:c.1904G>T NP_001182732.1:p.Trp635Leu