Canonical Allele Identifier: CA404098208
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129515C>T , CM000681.2:g.11129515C>T GRCh38
NC_000019.9:g.11240191C>T , CM000681.1:g.11240191C>T GRCh37
NC_000019.8:g.11101191C>T NCBI36
NG_009060.1:g.45135C>T , LRG_274:g.45135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2650C>T ENSP00000252444.6:p.Leu884Phe
ENST00000559340.2:c.*461C>T ENSP00000453696.2:n.*461C>T
ENST00000560467.2:c.2272C>T ENSP00000453513.2:p.Leu758Phe
ENST00000558518.6:c.2392C>T MANE Select ENSP00000454071.1:p.Leu798Phe
ENST00000252444.9:c.2646C>T
ENST00000455727.6:c.1888C>T ENSP00000397829.2:p.Leu630Phe
ENST00000535915.5:c.2269C>T ENSP00000440520.1:p.Leu757Phe
ENST00000545707.5:c.1858C>T ENSP00000437639.1:p.Leu620Phe
ENST00000557933.5:c.2454C>T ENSP00000453557.1:p.Cys818=
ENST00000558013.5:c.2392C>T ENSP00000453346.1:p.Leu798Phe
ENST00000558518.5:c.2392C>T ENSP00000454071.1:p.Leu798Phe
ENST00000560628.1:n.108+1861C>T
NM_000527.4:c.2392C>T , LRG_274t1:c.2392C>T NP_000518.1:p.Leu798Phe
NM_001195798.1:c.2392C>T NP_001182727.1:p.Leu798Phe
NM_001195799.1:c.2269C>T NP_001182728.1:p.Leu757Phe
NM_001195800.1:c.1888C>T NP_001182729.1:p.Leu630Phe
NM_001195803.1:c.1858C>T NP_001182732.1:p.Leu620Phe
XM_011528010.1:c.2314C>T XP_011526312.1:p.Leu772Phe
XM_011528011.1:c.2011C>T XP_011526313.1:p.Leu671Phe
XR_244074.2:n.2402C>T
XM_011528010.2:c.2314C>T XP_011526312.1:p.Leu772Phe
XR_001753685.2:n.2726C>T
XR_001753686.2:n.2369C>T
NM_000527.5:c.2392C>T MANE Select NP_000518.1:p.Leu798Phe
NM_001195798.2:c.2392C>T NP_001182727.1:p.Leu798Phe
NM_001195799.2:c.2269C>T NP_001182728.1:p.Leu757Phe
NM_001195800.2:c.1888C>T NP_001182729.1:p.Leu630Phe
NM_001195803.2:c.1858C>T NP_001182732.1:p.Leu620Phe