Canonical Allele Identifier: CA404098844
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440697
dbSNP Id: rs879255213

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129569A>C , CM000681.2:g.11129569A>C GRCh38
NC_000019.9:g.11240245A>C , CM000681.1:g.11240245A>C GRCh37
NC_000019.8:g.11101245A>C NCBI36
NG_009060.1:g.45189A>C , LRG_274:g.45189A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2704A>C ENSP00000252444.6:p.Lys902Gln
ENST00000559340.2:c.*515A>C ENSP00000453696.2:n.*515A>C
ENST00000560467.2:c.2326A>C ENSP00000453513.2:p.Lys776Gln
ENST00000558518.6:c.2446A>C MANE Select ENSP00000454071.1:p.Lys816Gln
ENST00000252444.9:c.2700A>C
ENST00000455727.6:c.1942A>C ENSP00000397829.2:p.Lys648Gln
ENST00000535915.5:c.2323A>C ENSP00000440520.1:p.Lys775Gln
ENST00000545707.5:c.1912A>C ENSP00000437639.1:p.Lys638Gln
ENST00000557933.5:c.2508A>C ENSP00000453557.1:p.Leu836Phe
ENST00000558013.5:c.2446A>C ENSP00000453346.1:p.Lys816Gln
ENST00000558518.5:c.2446A>C ENSP00000454071.1:p.Lys816Gln
ENST00000560628.1:n.108+1915A>C
NM_000527.4:c.2446A>C , LRG_274t1:c.2446A>C NP_000518.1:p.Lys816Gln
NM_001195798.1:c.2446A>C NP_001182727.1:p.Lys816Gln
NM_001195799.1:c.2323A>C NP_001182728.1:p.Lys775Gln
NM_001195800.1:c.1942A>C NP_001182729.1:p.Lys648Gln
NM_001195803.1:c.1912A>C NP_001182732.1:p.Lys638Gln
XM_011528010.1:c.2368A>C XP_011526312.1:p.Lys790Gln
XM_011528011.1:c.2065A>C XP_011526313.1:p.Lys689Gln
XR_244074.2:n.2456A>C
XM_011528010.2:c.2368A>C XP_011526312.1:p.Lys790Gln
XR_001753685.2:n.2780A>C
XR_001753686.2:n.2423A>C
NM_000527.5:c.2446A>C MANE Select NP_000518.1:p.Lys816Gln
NM_001195798.2:c.2446A>C NP_001182727.1:p.Lys816Gln
NM_001195799.2:c.2323A>C NP_001182728.1:p.Lys775Gln
NM_001195800.2:c.1942A>C NP_001182729.1:p.Lys648Gln
NM_001195803.2:c.1912A>C NP_001182732.1:p.Lys638Gln