Canonical Allele Identifier: CA404096917
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128082A>T , CM000681.2:g.11128082A>T GRCh38
NC_000019.9:g.11238758A>T , CM000681.1:g.11238758A>T GRCh37
NC_000019.8:g.11099758A>T NCBI36
NG_009060.1:g.43702A>T , LRG_274:g.43702A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2644A>T ENSP00000252444.6:p.Ile882Phe
ENST00000559340.2:c.*455A>T ENSP00000453696.2:n.*455A>T
ENST00000560467.2:c.2266A>T ENSP00000453513.2:p.Ile756Phe
ENST00000558518.6:c.2386A>T MANE Select ENSP00000454071.1:p.Ile796Phe
ENST00000252444.9:c.2640A>T
ENST00000455727.6:c.1882A>T ENSP00000397829.2:p.Ile628Phe
ENST00000535915.5:c.2263A>T ENSP00000440520.1:p.Ile755Phe
ENST00000545707.5:c.1852A>T ENSP00000437639.1:p.Ile618Phe
ENST00000557933.5:c.2386A>T ENSP00000453557.1:p.Ile796Phe
ENST00000558013.5:c.2386A>T ENSP00000453346.1:p.Ile796Phe
ENST00000558518.5:c.2386A>T ENSP00000454071.1:p.Ile796Phe
ENST00000560628.1:n.108+428A>T
NM_000527.4:c.2386A>T , LRG_274t1:c.2386A>T NP_000518.1:p.Ile796Phe
NM_001195798.1:c.2386A>T NP_001182727.1:p.Ile796Phe
NM_001195799.1:c.2263A>T NP_001182728.1:p.Ile755Phe
NM_001195800.1:c.1882A>T NP_001182729.1:p.Ile628Phe
NM_001195803.1:c.1852A>T NP_001182732.1:p.Ile618Phe
XM_011528010.1:c.2312-1431A>T XP_011526312.1:n.2312-1431A>T
XM_011528011.1:c.2005A>T XP_011526313.1:p.Ile669Phe
XR_244074.2:n.2396A>T
XM_011528010.2:c.2312-1431A>T XP_011526312.1:n.2312-1431A>T
XR_001753685.2:n.2720A>T
XR_001753686.2:n.2363A>T
NM_000527.5:c.2386A>T MANE Select NP_000518.1:p.Ile796Phe
NM_001195798.2:c.2386A>T NP_001182727.1:p.Ile796Phe
NM_001195799.2:c.2263A>T NP_001182728.1:p.Ile755Phe
NM_001195800.2:c.1882A>T NP_001182729.1:p.Ile628Phe
NM_001195803.2:c.1852A>T NP_001182732.1:p.Ile618Phe