Canonical Allele Identifier: CA404099346
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129609A>T , CM000681.2:g.11129609A>T GRCh38
NC_000019.9:g.11240285A>T , CM000681.1:g.11240285A>T GRCh37
NC_000019.8:g.11101285A>T NCBI36
NG_009060.1:g.45229A>T , LRG_274:g.45229A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2744A>T ENSP00000252444.6:p.Gln915Leu
ENST00000559340.2:c.*555A>T ENSP00000453696.2:n.*555A>T
ENST00000560467.2:c.2366A>T ENSP00000453513.2:p.Gln789Leu
ENST00000558518.6:c.2486A>T MANE Select ENSP00000454071.1:p.Gln829Leu
ENST00000252444.9:c.2740A>T
ENST00000455727.6:c.1982A>T ENSP00000397829.2:p.Gln661Leu
ENST00000535915.5:c.2363A>T ENSP00000440520.1:p.Gln788Leu
ENST00000545707.5:c.1952A>T ENSP00000437639.1:p.Gln651Leu
ENST00000557933.5:c.2548A>T ENSP00000453557.1:p.Arg850Ter
ENST00000558013.5:c.2486A>T ENSP00000453346.1:p.Gln829Leu
ENST00000558518.5:c.2486A>T ENSP00000454071.1:p.Gln829Leu
ENST00000560628.1:n.108+1955A>T
NM_000527.4:c.2486A>T , LRG_274t1:c.2486A>T NP_000518.1:p.Gln829Leu
NM_001195798.1:c.2486A>T NP_001182727.1:p.Gln829Leu
NM_001195799.1:c.2363A>T NP_001182728.1:p.Gln788Leu
NM_001195800.1:c.1982A>T NP_001182729.1:p.Gln661Leu
NM_001195803.1:c.1952A>T NP_001182732.1:p.Gln651Leu
XM_011528010.1:c.2408A>T XP_011526312.1:p.Gln803Leu
XM_011528011.1:c.2105A>T XP_011526313.1:p.Gln702Leu
XM_011528010.2:c.2408A>T XP_011526312.1:p.Gln803Leu
XR_001753685.2:n.2820A>T
XR_001753686.2:n.2463A>T
NM_000527.5:c.2486A>T MANE Select NP_000518.1:p.Gln829Leu
NM_001195798.2:c.2486A>T NP_001182727.1:p.Gln829Leu
NM_001195799.2:c.2363A>T NP_001182728.1:p.Gln788Leu
NM_001195800.2:c.1982A>T NP_001182729.1:p.Gln661Leu
NM_001195803.2:c.1952A>T NP_001182732.1:p.Gln651Leu