Canonical Allele Identifier: CA404099352
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129610G>A , CM000681.2:g.11129610G>A GRCh38
NC_000019.9:g.11240286G>A , CM000681.1:g.11240286G>A GRCh37
NC_000019.8:g.11101286G>A NCBI36
NG_009060.1:g.45230G>A , LRG_274:g.45230G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2745G>A ENSP00000252444.6:p.Gln915=
ENST00000559340.2:c.*556G>A ENSP00000453696.2:n.*556G>A
ENST00000560467.2:c.2367G>A ENSP00000453513.2:p.Gln789=
ENST00000558518.6:c.2487G>A MANE Select ENSP00000454071.1:p.Gln829=
ENST00000252444.9:c.2741G>A
ENST00000455727.6:c.1983G>A ENSP00000397829.2:p.Gln661=
ENST00000535915.5:c.2364G>A ENSP00000440520.1:p.Gln788=
ENST00000545707.5:c.1953G>A ENSP00000437639.1:p.Gln651=
ENST00000557933.5:c.2549G>A ENSP00000453557.1:p.Arg850Lys
ENST00000558013.5:c.2487G>A ENSP00000453346.1:p.Gln829=
ENST00000558518.5:c.2487G>A ENSP00000454071.1:p.Gln829=
ENST00000560628.1:n.108+1956G>A
NM_000527.4:c.2487G>A , LRG_274t1:c.2487G>A NP_000518.1:p.Gln829=
NM_001195798.1:c.2487G>A NP_001182727.1:p.Gln829=
NM_001195799.1:c.2364G>A NP_001182728.1:p.Gln788=
NM_001195800.1:c.1983G>A NP_001182729.1:p.Gln661=
NM_001195803.1:c.1953G>A NP_001182732.1:p.Gln651=
XM_011528010.1:c.2409G>A XP_011526312.1:p.Gln803=
XM_011528011.1:c.2106G>A XP_011526313.1:p.Gln702=
XM_011528010.2:c.2409G>A XP_011526312.1:p.Gln803=
XR_001753685.2:n.2821G>A
XR_001753686.2:n.2464G>A
NM_000527.5:c.2487G>A MANE Select NP_000518.1:p.Gln829=
NM_001195798.2:c.2487G>A NP_001182727.1:p.Gln829=
NM_001195799.2:c.2364G>A NP_001182728.1:p.Gln788=
NM_001195800.2:c.1983G>A NP_001182729.1:p.Gln661=
NM_001195803.2:c.1953G>A NP_001182732.1:p.Gln651=