Canonical Allele Identifier: CA404098603
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129546T>A , CM000681.2:g.11129546T>A GRCh38
NC_000019.9:g.11240222T>A , CM000681.1:g.11240222T>A GRCh37
NC_000019.8:g.11101222T>A NCBI36
NG_009060.1:g.45166T>A , LRG_274:g.45166T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2681T>A ENSP00000252444.6:p.Leu894His
ENST00000559340.2:c.*492T>A ENSP00000453696.2:n.*492T>A
ENST00000560467.2:c.2303T>A ENSP00000453513.2:p.Leu768His
ENST00000558518.6:c.2423T>A MANE Select ENSP00000454071.1:p.Leu808His
ENST00000252444.9:c.2677T>A
ENST00000455727.6:c.1919T>A ENSP00000397829.2:p.Leu640His
ENST00000535915.5:c.2300T>A ENSP00000440520.1:p.Leu767His
ENST00000545707.5:c.1889T>A ENSP00000437639.1:p.Leu630His
ENST00000557933.5:c.2485T>A ENSP00000453557.1:p.Phe829Ile
ENST00000558013.5:c.2423T>A ENSP00000453346.1:p.Leu808His
ENST00000558518.5:c.2423T>A ENSP00000454071.1:p.Leu808His
ENST00000560628.1:n.108+1892T>A
NM_000527.4:c.2423T>A , LRG_274t1:c.2423T>A NP_000518.1:p.Leu808His
NM_001195798.1:c.2423T>A NP_001182727.1:p.Leu808His
NM_001195799.1:c.2300T>A NP_001182728.1:p.Leu767His
NM_001195800.1:c.1919T>A NP_001182729.1:p.Leu640His
NM_001195803.1:c.1889T>A NP_001182732.1:p.Leu630His
XM_011528010.1:c.2345T>A XP_011526312.1:p.Leu782His
XM_011528011.1:c.2042T>A XP_011526313.1:p.Leu681His
XR_244074.2:n.2433T>A
XM_011528010.2:c.2345T>A XP_011526312.1:p.Leu782His
XR_001753685.2:n.2757T>A
XR_001753686.2:n.2400T>A
NM_000527.5:c.2423T>A MANE Select NP_000518.1:p.Leu808His
NM_001195798.2:c.2423T>A NP_001182727.1:p.Leu808His
NM_001195799.2:c.2300T>A NP_001182728.1:p.Leu767His
NM_001195800.2:c.1919T>A NP_001182729.1:p.Leu640His
NM_001195803.2:c.1889T>A NP_001182732.1:p.Leu630His