Canonical Allele Identifier: CA404099011
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129582G>C , CM000681.2:g.11129582G>C GRCh38
NC_000019.9:g.11240258G>C , CM000681.1:g.11240258G>C GRCh37
NC_000019.8:g.11101258G>C NCBI36
NG_009060.1:g.45202G>C , LRG_274:g.45202G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2717G>C ENSP00000252444.6:p.Ser906Thr
ENST00000559340.2:c.*528G>C ENSP00000453696.2:n.*528G>C
ENST00000560467.2:c.2339G>C ENSP00000453513.2:p.Ser780Thr
ENST00000558518.6:c.2459G>C MANE Select ENSP00000454071.1:p.Ser820Thr
ENST00000252444.9:c.2713G>C
ENST00000455727.6:c.1955G>C ENSP00000397829.2:p.Ser652Thr
ENST00000535915.5:c.2336G>C ENSP00000440520.1:p.Ser779Thr
ENST00000545707.5:c.1925G>C ENSP00000437639.1:p.Ser642Thr
ENST00000557933.5:c.2521G>C ENSP00000453557.1:p.Ala841Pro
ENST00000558013.5:c.2459G>C ENSP00000453346.1:p.Ser820Thr
ENST00000558518.5:c.2459G>C ENSP00000454071.1:p.Ser820Thr
ENST00000560628.1:n.108+1928G>C
NM_000527.4:c.2459G>C , LRG_274t1:c.2459G>C NP_000518.1:p.Ser820Thr
NM_001195798.1:c.2459G>C NP_001182727.1:p.Ser820Thr
NM_001195799.1:c.2336G>C NP_001182728.1:p.Ser779Thr
NM_001195800.1:c.1955G>C NP_001182729.1:p.Ser652Thr
NM_001195803.1:c.1925G>C NP_001182732.1:p.Ser642Thr
XM_011528010.1:c.2381G>C XP_011526312.1:p.Ser794Thr
XM_011528011.1:c.2078G>C XP_011526313.1:p.Ser693Thr
XM_011528010.2:c.2381G>C XP_011526312.1:p.Ser794Thr
XR_001753685.2:n.2793G>C
XR_001753686.2:n.2436G>C
NM_000527.5:c.2459G>C MANE Select NP_000518.1:p.Ser820Thr
NM_001195798.2:c.2459G>C NP_001182727.1:p.Ser820Thr
NM_001195799.2:c.2336G>C NP_001182728.1:p.Ser779Thr
NM_001195800.2:c.1955G>C NP_001182729.1:p.Ser652Thr
NM_001195803.2:c.1925G>C NP_001182732.1:p.Ser642Thr