Canonical Allele Identifier: CA404099895
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129660G>C , CM000681.2:g.11129660G>C GRCh38
NC_000019.9:g.11240336G>C , CM000681.1:g.11240336G>C GRCh37
NC_000019.8:g.11101336G>C NCBI36
NG_009060.1:g.45280G>C , LRG_274:g.45280G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2795G>C ENSP00000252444.6:p.Ser932Thr
ENST00000559340.2:c.*606G>C ENSP00000453696.2:n.*606G>C
ENST00000560467.2:c.2417G>C ENSP00000453513.2:p.Ser806Thr
ENST00000558518.6:c.2537G>C MANE Select ENSP00000454071.1:p.Ser846Thr
ENST00000252444.9:c.2791G>C
ENST00000455727.6:c.2033G>C ENSP00000397829.2:p.Ser678Thr
ENST00000535915.5:c.2414G>C ENSP00000440520.1:p.Ser805Thr
ENST00000545707.5:c.2003G>C ENSP00000437639.1:p.Ser668Thr
ENST00000557933.5:c.2599G>C ENSP00000453557.1:p.Ala867Pro
ENST00000558013.5:c.2537G>C ENSP00000453346.1:p.Ser846Thr
ENST00000558518.5:c.2537G>C ENSP00000454071.1:p.Ser846Thr
ENST00000560628.1:n.108+2006G>C
NM_000527.4:c.2537G>C , LRG_274t1:c.2537G>C NP_000518.1:p.Ser846Thr
NM_001195798.1:c.2537G>C NP_001182727.1:p.Ser846Thr
NM_001195799.1:c.2414G>C NP_001182728.1:p.Ser805Thr
NM_001195800.1:c.2033G>C NP_001182729.1:p.Ser678Thr
NM_001195803.1:c.2003G>C NP_001182732.1:p.Ser668Thr
XM_011528010.1:c.2459G>C XP_011526312.1:p.Ser820Thr
XM_011528011.1:c.2156G>C XP_011526313.1:p.Ser719Thr
XM_011528010.2:c.2459G>C XP_011526312.1:p.Ser820Thr
XR_001753685.2:n.2871G>C
XR_001753686.2:n.2514G>C
NM_000527.5:c.2537G>C MANE Select NP_000518.1:p.Ser846Thr
NM_001195798.2:c.2537G>C NP_001182727.1:p.Ser846Thr
NM_001195799.2:c.2414G>C NP_001182728.1:p.Ser805Thr
NM_001195800.2:c.2033G>C NP_001182729.1:p.Ser678Thr
NM_001195803.2:c.2003G>C NP_001182732.1:p.Ser668Thr