Canonical Allele Identifier: CA404099436
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129618C>T , CM000681.2:g.11129618C>T GRCh38
NC_000019.9:g.11240294C>T , CM000681.1:g.11240294C>T GRCh37
NC_000019.8:g.11101294C>T NCBI36
NG_009060.1:g.45238C>T , LRG_274:g.45238C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2753C>T ENSP00000252444.6:p.Thr918Ile
ENST00000559340.2:c.*564C>T ENSP00000453696.2:n.*564C>T
ENST00000560467.2:c.2375C>T ENSP00000453513.2:p.Thr792Ile
ENST00000558518.6:c.2495C>T MANE Select ENSP00000454071.1:p.Thr832Ile
ENST00000252444.9:c.2749C>T
ENST00000455727.6:c.1991C>T ENSP00000397829.2:p.Thr664Ile
ENST00000535915.5:c.2372C>T ENSP00000440520.1:p.Thr791Ile
ENST00000545707.5:c.1961C>T ENSP00000437639.1:p.Thr654Ile
ENST00000557933.5:c.2557C>T ENSP00000453557.1:p.Gln853Ter
ENST00000558013.5:c.2495C>T ENSP00000453346.1:p.Thr832Ile
ENST00000558518.5:c.2495C>T ENSP00000454071.1:p.Thr832Ile
ENST00000560628.1:n.108+1964C>T
NM_000527.4:c.2495C>T , LRG_274t1:c.2495C>T NP_000518.1:p.Thr832Ile
NM_001195798.1:c.2495C>T NP_001182727.1:p.Thr832Ile
NM_001195799.1:c.2372C>T NP_001182728.1:p.Thr791Ile
NM_001195800.1:c.1991C>T NP_001182729.1:p.Thr664Ile
NM_001195803.1:c.1961C>T NP_001182732.1:p.Thr654Ile
XM_011528010.1:c.2417C>T XP_011526312.1:p.Thr806Ile
XM_011528011.1:c.2114C>T XP_011526313.1:p.Thr705Ile
XM_011528010.2:c.2417C>T XP_011526312.1:p.Thr806Ile
XR_001753685.2:n.2829C>T
XR_001753686.2:n.2472C>T
NM_000527.5:c.2495C>T MANE Select NP_000518.1:p.Thr832Ile
NM_001195798.2:c.2495C>T NP_001182727.1:p.Thr832Ile
NM_001195799.2:c.2372C>T NP_001182728.1:p.Thr791Ile
NM_001195800.2:c.1991C>T NP_001182729.1:p.Thr664Ile
NM_001195803.2:c.1961C>T NP_001182732.1:p.Thr654Ile