Canonical Allele Identifier: CA404099425
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129617A>C , CM000681.2:g.11129617A>C GRCh38
NC_000019.9:g.11240293A>C , CM000681.1:g.11240293A>C GRCh37
NC_000019.8:g.11101293A>C NCBI36
NG_009060.1:g.45237A>C , LRG_274:g.45237A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2752A>C ENSP00000252444.6:p.Thr918Pro
ENST00000559340.2:c.*563A>C ENSP00000453696.2:n.*563A>C
ENST00000560467.2:c.2374A>C ENSP00000453513.2:p.Thr792Pro
ENST00000558518.6:c.2494A>C MANE Select ENSP00000454071.1:p.Thr832Pro
ENST00000252444.9:c.2748A>C
ENST00000455727.6:c.1990A>C ENSP00000397829.2:p.Thr664Pro
ENST00000535915.5:c.2371A>C ENSP00000440520.1:p.Thr791Pro
ENST00000545707.5:c.1960A>C ENSP00000437639.1:p.Thr654Pro
ENST00000557933.5:c.2556A>C ENSP00000453557.1:p.Pro852=
ENST00000558013.5:c.2494A>C ENSP00000453346.1:p.Thr832Pro
ENST00000558518.5:c.2494A>C ENSP00000454071.1:p.Thr832Pro
ENST00000560628.1:n.108+1963A>C
NM_000527.4:c.2494A>C , LRG_274t1:c.2494A>C NP_000518.1:p.Thr832Pro
NM_001195798.1:c.2494A>C NP_001182727.1:p.Thr832Pro
NM_001195799.1:c.2371A>C NP_001182728.1:p.Thr791Pro
NM_001195800.1:c.1990A>C NP_001182729.1:p.Thr664Pro
NM_001195803.1:c.1960A>C NP_001182732.1:p.Thr654Pro
XM_011528010.1:c.2416A>C XP_011526312.1:p.Thr806Pro
XM_011528011.1:c.2113A>C XP_011526313.1:p.Thr705Pro
XM_011528010.2:c.2416A>C XP_011526312.1:p.Thr806Pro
XR_001753685.2:n.2828A>C
XR_001753686.2:n.2471A>C
NM_000527.5:c.2494A>C MANE Select NP_000518.1:p.Thr832Pro
NM_001195798.2:c.2494A>C NP_001182727.1:p.Thr832Pro
NM_001195799.2:c.2371A>C NP_001182728.1:p.Thr791Pro
NM_001195800.2:c.1990A>C NP_001182729.1:p.Thr664Pro
NM_001195803.2:c.1960A>C NP_001182732.1:p.Thr654Pro