Canonical Allele Identifier: CA404098673
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129552G>T , CM000681.2:g.11129552G>T GRCh38
NC_000019.9:g.11240228G>T , CM000681.1:g.11240228G>T GRCh37
NC_000019.8:g.11101228G>T NCBI36
NG_009060.1:g.45172G>T , LRG_274:g.45172G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2687G>T ENSP00000252444.6:p.Trp896Leu
ENST00000559340.2:c.*498G>T ENSP00000453696.2:n.*498G>T
ENST00000560467.2:c.2309G>T ENSP00000453513.2:p.Trp770Leu
ENST00000558518.6:c.2429G>T MANE Select ENSP00000454071.1:p.Trp810Leu
ENST00000252444.9:c.2683G>T
ENST00000455727.6:c.1925G>T ENSP00000397829.2:p.Trp642Leu
ENST00000535915.5:c.2306G>T ENSP00000440520.1:p.Trp769Leu
ENST00000545707.5:c.1895G>T ENSP00000437639.1:p.Trp632Leu
ENST00000557933.5:c.2491G>T ENSP00000453557.1:p.Gly831Ter
ENST00000558013.5:c.2429G>T ENSP00000453346.1:p.Trp810Leu
ENST00000558518.5:c.2429G>T ENSP00000454071.1:p.Trp810Leu
ENST00000560628.1:n.108+1898G>T
NM_000527.4:c.2429G>T , LRG_274t1:c.2429G>T NP_000518.1:p.Trp810Leu
NM_001195798.1:c.2429G>T NP_001182727.1:p.Trp810Leu
NM_001195799.1:c.2306G>T NP_001182728.1:p.Trp769Leu
NM_001195800.1:c.1925G>T NP_001182729.1:p.Trp642Leu
NM_001195803.1:c.1895G>T NP_001182732.1:p.Trp632Leu
XM_011528010.1:c.2351G>T XP_011526312.1:p.Trp784Leu
XM_011528011.1:c.2048G>T XP_011526313.1:p.Trp683Leu
XR_244074.2:n.2439G>T
XM_011528010.2:c.2351G>T XP_011526312.1:p.Trp784Leu
XR_001753685.2:n.2763G>T
XR_001753686.2:n.2406G>T
NM_000527.5:c.2429G>T MANE Select NP_000518.1:p.Trp810Leu
NM_001195798.2:c.2429G>T NP_001182727.1:p.Trp810Leu
NM_001195799.2:c.2306G>T NP_001182728.1:p.Trp769Leu
NM_001195800.2:c.1925G>T NP_001182729.1:p.Trp642Leu
NM_001195803.2:c.1895G>T NP_001182732.1:p.Trp632Leu