Canonical Allele Identifier: CA029904
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251488
dbSNP Id: rs140241383

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107432C>A , CM000681.2:g.11107432C>A GRCh38
NC_000019.9:g.11218108C>A , CM000681.1:g.11218108C>A GRCh37
NC_000019.8:g.11079108C>A NCBI36
NG_009060.1:g.23052C>A , LRG_274:g.23052C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1116C>A ENSP00000252444.6:p.Ser372Arg
ENST00000559340.2:c.858C>A ENSP00000453696.2:p.Ser286Arg
ENST00000560467.2:c.858C>A ENSP00000453513.2:p.Ser286Arg
ENST00000558518.6:c.858C>A MANE Select ENSP00000454071.1:p.Ser286Arg
ENST00000252444.9:c.1112C>A
ENST00000455727.6:c.354C>A ENSP00000397829.2:p.Ser118Arg
ENST00000535915.5:c.735C>A ENSP00000440520.1:p.Ser245Arg
ENST00000545707.5:c.477C>A ENSP00000437639.1:p.Ser159Arg
ENST00000557933.5:c.858C>A ENSP00000453557.1:p.Ser286Arg
ENST00000558013.5:c.858C>A ENSP00000453346.1:p.Ser286Arg
ENST00000558518.5:c.858C>A ENSP00000454071.1:p.Ser286Arg
ENST00000558528.1:n.373C>A
ENST00000560467.1:c.458C>A
NM_000527.4:c.858C>A , LRG_274t1:c.858C>A NP_000518.1:p.Ser286Arg
NM_001195798.1:c.858C>A NP_001182727.1:p.Ser286Arg
NM_001195799.1:c.735C>A NP_001182728.1:p.Ser245Arg
NM_001195800.1:c.354C>A NP_001182729.1:p.Ser118Arg
NM_001195803.1:c.477C>A NP_001182732.1:p.Ser159Arg
XM_011528010.1:c.858C>A XP_011526312.1:p.Ser286Arg
XM_011528011.1:c.477C>A XP_011526313.1:p.Ser159Arg
XR_244074.2:n.1008C>A
XM_011528010.2:c.858C>A XP_011526312.1:p.Ser286Arg
XR_001753685.2:n.975C>A
XR_001753686.2:n.975C>A
NM_000527.5:c.858C>A MANE Select NP_000518.1:p.Ser286Arg
NM_001195798.2:c.858C>A NP_001182727.1:p.Ser286Arg
NM_001195799.2:c.735C>A NP_001182728.1:p.Ser245Arg
NM_001195800.2:c.354C>A NP_001182729.1:p.Ser118Arg
NM_001195803.2:c.477C>A NP_001182732.1:p.Ser159Arg