Canonical Allele Identifier: CA404099465
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 628154
ClinVar RCV Id: RCV000772470
dbSNP Id: rs1568619741

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129620G>A , CM000681.2:g.11129620G>A GRCh38
NC_000019.9:g.11240296G>A , CM000681.1:g.11240296G>A GRCh37
NC_000019.8:g.11101296G>A NCBI36
NG_009060.1:g.45240G>A , LRG_274:g.45240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2755G>A ENSP00000252444.6:p.Glu919Lys
ENST00000559340.2:c.*566G>A ENSP00000453696.2:n.*566G>A
ENST00000560467.2:c.2377G>A ENSP00000453513.2:p.Glu793Lys
ENST00000558518.6:c.2497G>A MANE Select ENSP00000454071.1:p.Glu833Lys
ENST00000252444.9:c.2751G>A
ENST00000455727.6:c.1993G>A ENSP00000397829.2:p.Glu665Lys
ENST00000535915.5:c.2374G>A ENSP00000440520.1:p.Glu792Lys
ENST00000545707.5:c.1963G>A ENSP00000437639.1:p.Glu655Lys
ENST00000557933.5:c.2559G>A ENSP00000453557.1:p.Gln853=
ENST00000558013.5:c.2497G>A ENSP00000453346.1:p.Glu833Lys
ENST00000558518.5:c.2497G>A ENSP00000454071.1:p.Glu833Lys
ENST00000560628.1:n.108+1966G>A
NM_000527.4:c.2497G>A , LRG_274t1:c.2497G>A NP_000518.1:p.Glu833Lys
NM_001195798.1:c.2497G>A NP_001182727.1:p.Glu833Lys
NM_001195799.1:c.2374G>A NP_001182728.1:p.Glu792Lys
NM_001195800.1:c.1993G>A NP_001182729.1:p.Glu665Lys
NM_001195803.1:c.1963G>A NP_001182732.1:p.Glu655Lys
XM_011528010.1:c.2419G>A XP_011526312.1:p.Glu807Lys
XM_011528011.1:c.2116G>A XP_011526313.1:p.Glu706Lys
XM_011528010.2:c.2419G>A XP_011526312.1:p.Glu807Lys
XR_001753685.2:n.2831G>A
XR_001753686.2:n.2474G>A
NM_000527.5:c.2497G>A MANE Select NP_000518.1:p.Glu833Lys
NM_001195798.2:c.2497G>A NP_001182727.1:p.Glu833Lys
NM_001195799.2:c.2374G>A NP_001182728.1:p.Glu792Lys
NM_001195800.2:c.1993G>A NP_001182729.1:p.Glu665Lys
NM_001195803.2:c.1963G>A NP_001182732.1:p.Glu655Lys