Canonical Allele Identifier: CA404098705
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129555A>T , CM000681.2:g.11129555A>T GRCh38
NC_000019.9:g.11240231A>T , CM000681.1:g.11240231A>T GRCh37
NC_000019.8:g.11101231A>T NCBI36
NG_009060.1:g.45175A>T , LRG_274:g.45175A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2690A>T ENSP00000252444.6:p.Lys897Met
ENST00000559340.2:c.*501A>T ENSP00000453696.2:n.*501A>T
ENST00000560467.2:c.2312A>T ENSP00000453513.2:p.Lys771Met
ENST00000558518.6:c.2432A>T MANE Select ENSP00000454071.1:p.Lys811Met
ENST00000252444.9:c.2686A>T
ENST00000455727.6:c.1928A>T ENSP00000397829.2:p.Lys643Met
ENST00000535915.5:c.2309A>T ENSP00000440520.1:p.Lys770Met
ENST00000545707.5:c.1898A>T ENSP00000437639.1:p.Lys633Met
ENST00000557933.5:c.2494A>T ENSP00000453557.1:p.Arg832Ter
ENST00000558013.5:c.2432A>T ENSP00000453346.1:p.Lys811Met
ENST00000558518.5:c.2432A>T ENSP00000454071.1:p.Lys811Met
ENST00000560628.1:n.108+1901A>T
NM_000527.4:c.2432A>T , LRG_274t1:c.2432A>T NP_000518.1:p.Lys811Met
NM_001195798.1:c.2432A>T NP_001182727.1:p.Lys811Met
NM_001195799.1:c.2309A>T NP_001182728.1:p.Lys770Met
NM_001195800.1:c.1928A>T NP_001182729.1:p.Lys643Met
NM_001195803.1:c.1898A>T NP_001182732.1:p.Lys633Met
XM_011528010.1:c.2354A>T XP_011526312.1:p.Lys785Met
XM_011528011.1:c.2051A>T XP_011526313.1:p.Lys684Met
XR_244074.2:n.2442A>T
XM_011528010.2:c.2354A>T XP_011526312.1:p.Lys785Met
XR_001753685.2:n.2766A>T
XR_001753686.2:n.2409A>T
NM_000527.5:c.2432A>T MANE Select NP_000518.1:p.Lys811Met
NM_001195798.2:c.2432A>T NP_001182727.1:p.Lys811Met
NM_001195799.2:c.2309A>T NP_001182728.1:p.Lys770Met
NM_001195800.2:c.1928A>T NP_001182729.1:p.Lys643Met
NM_001195803.2:c.1898A>T NP_001182732.1:p.Lys633Met