Canonical Allele Identifier: CA10585282
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251640
dbSNP Id: rs755449669

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111514A>T , CM000681.2:g.11111514A>T GRCh38
NC_000019.9:g.11222190A>T , CM000681.1:g.11222190A>T GRCh37
NC_000019.8:g.11083190A>T NCBI36
NG_009060.1:g.27134A>T , LRG_274:g.27134A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1319A>T ENSP00000252444.6:p.Asp440Val
ENST00000559340.2:c.1061A>T ENSP00000453696.2:p.Asp354Val
ENST00000560467.2:c.941A>T ENSP00000453513.2:p.Asp314Val
ENST00000558518.6:c.1061A>T MANE Select ENSP00000454071.1:p.Asp354Val
ENST00000252444.9:c.1315A>T
ENST00000455727.6:c.557A>T ENSP00000397829.2:p.Asp186Val
ENST00000535915.5:c.938A>T ENSP00000440520.1:p.Asp313Val
ENST00000545707.5:c.680A>T ENSP00000437639.1:p.Asp227Val
ENST00000557933.5:c.1061A>T ENSP00000453557.1:p.Asp354Val
ENST00000558013.5:c.1061A>T ENSP00000453346.1:p.Asp354Val
ENST00000558518.5:c.1061A>T ENSP00000454071.1:p.Asp354Val
ENST00000560173.1:n.60A>T
ENST00000560467.1:c.541A>T
NM_000527.4:c.1061A>T , LRG_274t1:c.1061A>T NP_000518.1:p.Asp354Val
NM_001195798.1:c.1061A>T NP_001182727.1:p.Asp354Val
NM_001195799.1:c.938A>T NP_001182728.1:p.Asp313Val
NM_001195800.1:c.557A>T NP_001182729.1:p.Asp186Val
NM_001195803.1:c.680A>T NP_001182732.1:p.Asp227Val
XM_011528010.1:c.1061A>T XP_011526312.1:p.Asp354Val
XM_011528011.1:c.680A>T XP_011526313.1:p.Asp227Val
XR_244074.2:n.1211A>T
XM_011528010.2:c.1061A>T XP_011526312.1:p.Asp354Val
XR_001753685.2:n.1178A>T
XR_001753686.2:n.1178A>T
NM_000527.5:c.1061A>T MANE Select NP_000518.1:p.Asp354Val
NM_001195798.2:c.1061A>T NP_001182727.1:p.Asp354Val
NM_001195799.2:c.938A>T NP_001182728.1:p.Asp313Val
NM_001195800.2:c.557A>T NP_001182729.1:p.Asp186Val
NM_001195803.2:c.680A>T NP_001182732.1:p.Asp227Val