Canonical Allele Identifier: CA404098689
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129554A>C , CM000681.2:g.11129554A>C GRCh38
NC_000019.9:g.11240230A>C , CM000681.1:g.11240230A>C GRCh37
NC_000019.8:g.11101230A>C NCBI36
NG_009060.1:g.45174A>C , LRG_274:g.45174A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2689A>C ENSP00000252444.6:p.Lys897Gln
ENST00000559340.2:c.*500A>C ENSP00000453696.2:n.*500A>C
ENST00000560467.2:c.2311A>C ENSP00000453513.2:p.Lys771Gln
ENST00000558518.6:c.2431A>C MANE Select ENSP00000454071.1:p.Lys811Gln
ENST00000252444.9:c.2685A>C
ENST00000455727.6:c.1927A>C ENSP00000397829.2:p.Lys643Gln
ENST00000535915.5:c.2308A>C ENSP00000440520.1:p.Lys770Gln
ENST00000545707.5:c.1897A>C ENSP00000437639.1:p.Lys633Gln
ENST00000557933.5:c.2493A>C ENSP00000453557.1:p.Gly831=
ENST00000558013.5:c.2431A>C ENSP00000453346.1:p.Lys811Gln
ENST00000558518.5:c.2431A>C ENSP00000454071.1:p.Lys811Gln
ENST00000560628.1:n.108+1900A>C
NM_000527.4:c.2431A>C , LRG_274t1:c.2431A>C NP_000518.1:p.Lys811Gln
NM_001195798.1:c.2431A>C NP_001182727.1:p.Lys811Gln
NM_001195799.1:c.2308A>C NP_001182728.1:p.Lys770Gln
NM_001195800.1:c.1927A>C NP_001182729.1:p.Lys643Gln
NM_001195803.1:c.1897A>C NP_001182732.1:p.Lys633Gln
XM_011528010.1:c.2353A>C XP_011526312.1:p.Lys785Gln
XM_011528011.1:c.2050A>C XP_011526313.1:p.Lys684Gln
XR_244074.2:n.2441A>C
XM_011528010.2:c.2353A>C XP_011526312.1:p.Lys785Gln
XR_001753685.2:n.2765A>C
XR_001753686.2:n.2408A>C
NM_000527.5:c.2431A>C MANE Select NP_000518.1:p.Lys811Gln
NM_001195798.2:c.2431A>C NP_001182727.1:p.Lys811Gln
NM_001195799.2:c.2308A>C NP_001182728.1:p.Lys770Gln
NM_001195800.2:c.1927A>C NP_001182729.1:p.Lys643Gln
NM_001195803.2:c.1897A>C NP_001182732.1:p.Lys633Gln