Canonical Allele Identifier: CA404098496
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129539G>A , CM000681.2:g.11129539G>A GRCh38
NC_000019.9:g.11240215G>A , CM000681.1:g.11240215G>A GRCh37
NC_000019.8:g.11101215G>A NCBI36
NG_009060.1:g.45159G>A , LRG_274:g.45159G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2674G>A ENSP00000252444.6:p.Val892Ile
ENST00000559340.2:c.*485G>A ENSP00000453696.2:n.*485G>A
ENST00000560467.2:c.2296G>A ENSP00000453513.2:p.Val766Ile
ENST00000558518.6:c.2416G>A MANE Select ENSP00000454071.1:p.Val806Ile
ENST00000252444.9:c.2670G>A
ENST00000455727.6:c.1912G>A ENSP00000397829.2:p.Val638Ile
ENST00000535915.5:c.2293G>A ENSP00000440520.1:p.Val765Ile
ENST00000545707.5:c.1882G>A ENSP00000437639.1:p.Val628Ile
ENST00000557933.5:c.2478G>A ENSP00000453557.1:p.Gly826=
ENST00000558013.5:c.2416G>A ENSP00000453346.1:p.Val806Ile
ENST00000558518.5:c.2416G>A ENSP00000454071.1:p.Val806Ile
ENST00000560628.1:n.108+1885G>A
NM_000527.4:c.2416G>A , LRG_274t1:c.2416G>A NP_000518.1:p.Val806Ile
NM_001195798.1:c.2416G>A NP_001182727.1:p.Val806Ile
NM_001195799.1:c.2293G>A NP_001182728.1:p.Val765Ile
NM_001195800.1:c.1912G>A NP_001182729.1:p.Val638Ile
NM_001195803.1:c.1882G>A NP_001182732.1:p.Val628Ile
XM_011528010.1:c.2338G>A XP_011526312.1:p.Val780Ile
XM_011528011.1:c.2035G>A XP_011526313.1:p.Val679Ile
XR_244074.2:n.2426G>A
XM_011528010.2:c.2338G>A XP_011526312.1:p.Val780Ile
XR_001753685.2:n.2750G>A
XR_001753686.2:n.2393G>A
NM_000527.5:c.2416G>A MANE Select NP_000518.1:p.Val806Ile
NM_001195798.2:c.2416G>A NP_001182727.1:p.Val806Ile
NM_001195799.2:c.2293G>A NP_001182728.1:p.Val765Ile
NM_001195800.2:c.1912G>A NP_001182729.1:p.Val638Ile
NM_001195803.2:c.1882G>A NP_001182732.1:p.Val628Ile