Canonical Allele Identifier: CA404098458
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1284721
dbSNP Id: rs2147286859

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129537G>A , CM000681.2:g.11129537G>A GRCh38
NC_000019.9:g.11240213G>A , CM000681.1:g.11240213G>A GRCh37
NC_000019.8:g.11101213G>A NCBI36
NG_009060.1:g.45157G>A , LRG_274:g.45157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2672G>A ENSP00000252444.6:p.Gly891Glu
ENST00000559340.2:c.*483G>A ENSP00000453696.2:n.*483G>A
ENST00000560467.2:c.2294G>A ENSP00000453513.2:p.Gly765Glu
ENST00000558518.6:c.2414G>A MANE Select ENSP00000454071.1:p.Gly805Glu
ENST00000252444.9:c.2668G>A
ENST00000455727.6:c.1910G>A ENSP00000397829.2:p.Gly637Glu
ENST00000535915.5:c.2291G>A ENSP00000440520.1:p.Gly764Glu
ENST00000545707.5:c.1880G>A ENSP00000437639.1:p.Gly627Glu
ENST00000557933.5:c.2476G>A ENSP00000453557.1:p.Gly826Arg
ENST00000558013.5:c.2414G>A ENSP00000453346.1:p.Gly805Glu
ENST00000558518.5:c.2414G>A ENSP00000454071.1:p.Gly805Glu
ENST00000560628.1:n.108+1883G>A
NM_000527.4:c.2414G>A , LRG_274t1:c.2414G>A NP_000518.1:p.Gly805Glu
NM_001195798.1:c.2414G>A NP_001182727.1:p.Gly805Glu
NM_001195799.1:c.2291G>A NP_001182728.1:p.Gly764Glu
NM_001195800.1:c.1910G>A NP_001182729.1:p.Gly637Glu
NM_001195803.1:c.1880G>A NP_001182732.1:p.Gly627Glu
XM_011528010.1:c.2336G>A XP_011526312.1:p.Gly779Glu
XM_011528011.1:c.2033G>A XP_011526313.1:p.Gly678Glu
XR_244074.2:n.2424G>A
XM_011528010.2:c.2336G>A XP_011526312.1:p.Gly779Glu
XR_001753685.2:n.2748G>A
XR_001753686.2:n.2391G>A
NM_000527.5:c.2414G>A MANE Select NP_000518.1:p.Gly805Glu
NM_001195798.2:c.2414G>A NP_001182727.1:p.Gly805Glu
NM_001195799.2:c.2291G>A NP_001182728.1:p.Gly764Glu
NM_001195800.2:c.1910G>A NP_001182729.1:p.Gly637Glu
NM_001195803.2:c.1880G>A NP_001182732.1:p.Gly627Glu