Canonical Allele Identifier: CA404099656
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129639G>T , CM000681.2:g.11129639G>T GRCh38
NC_000019.9:g.11240315G>T , CM000681.1:g.11240315G>T GRCh37
NC_000019.8:g.11101315G>T NCBI36
NG_009060.1:g.45259G>T , LRG_274:g.45259G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2774G>T ENSP00000252444.6:p.Cys925Phe
ENST00000559340.2:c.*585G>T ENSP00000453696.2:n.*585G>T
ENST00000560467.2:c.2396G>T ENSP00000453513.2:p.Cys799Phe
ENST00000558518.6:c.2516G>T MANE Select ENSP00000454071.1:p.Cys839Phe
ENST00000252444.9:c.2770G>T
ENST00000455727.6:c.2012G>T ENSP00000397829.2:p.Cys671Phe
ENST00000535915.5:c.2393G>T ENSP00000440520.1:p.Cys798Phe
ENST00000545707.5:c.1982G>T ENSP00000437639.1:p.Cys661Phe
ENST00000557933.5:c.2578G>T ENSP00000453557.1:p.Ala860Ser
ENST00000558013.5:c.2516G>T ENSP00000453346.1:p.Cys839Phe
ENST00000558518.5:c.2516G>T ENSP00000454071.1:p.Cys839Phe
ENST00000560628.1:n.108+1985G>T
NM_000527.4:c.2516G>T , LRG_274t1:c.2516G>T NP_000518.1:p.Cys839Phe
NM_001195798.1:c.2516G>T NP_001182727.1:p.Cys839Phe
NM_001195799.1:c.2393G>T NP_001182728.1:p.Cys798Phe
NM_001195800.1:c.2012G>T NP_001182729.1:p.Cys671Phe
NM_001195803.1:c.1982G>T NP_001182732.1:p.Cys661Phe
XM_011528010.1:c.2438G>T XP_011526312.1:p.Cys813Phe
XM_011528011.1:c.2135G>T XP_011526313.1:p.Cys712Phe
XM_011528010.2:c.2438G>T XP_011526312.1:p.Cys813Phe
XR_001753685.2:n.2850G>T
XR_001753686.2:n.2493G>T
NM_000527.5:c.2516G>T MANE Select NP_000518.1:p.Cys839Phe
NM_001195798.2:c.2516G>T NP_001182727.1:p.Cys839Phe
NM_001195799.2:c.2393G>T NP_001182728.1:p.Cys798Phe
NM_001195800.2:c.2012G>T NP_001182729.1:p.Cys671Phe
NM_001195803.2:c.1982G>T NP_001182732.1:p.Cys661Phe