Canonical Allele Identifier: CA10654855
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369849
dbSNP Id: rs1057516127

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123200G>T , CM000681.2:g.11123200G>T GRCh38
NC_000019.9:g.11233876G>T , CM000681.1:g.11233876G>T GRCh37
NC_000019.8:g.11094876G>T NCBI36
NG_009060.1:g.38820G>T , LRG_274:g.38820G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2425G>T ENSP00000252444.6:p.Glu809Ter
ENST00000559340.2:c.*236G>T ENSP00000453696.2:n.*236G>T
ENST00000560467.2:c.2047G>T ENSP00000453513.2:p.Glu683Ter
ENST00000558518.6:c.2167G>T MANE Select ENSP00000454071.1:p.Glu723Ter
ENST00000252444.9:c.2421G>T
ENST00000455727.6:c.1663G>T ENSP00000397829.2:p.Glu555Ter
ENST00000535915.5:c.2044G>T ENSP00000440520.1:p.Glu682Ter
ENST00000545707.5:c.1633G>T ENSP00000437639.1:p.Glu545Ter
ENST00000557933.5:c.2167G>T ENSP00000453557.1:p.Glu723Ter
ENST00000558013.5:c.2167G>T ENSP00000453346.1:p.Glu723Ter
ENST00000558518.5:c.2167G>T ENSP00000454071.1:p.Glu723Ter
NM_000527.4:c.2167G>T , LRG_274t1:c.2167G>T NP_000518.1:p.Glu723Ter
NM_001195798.1:c.2167G>T NP_001182727.1:p.Glu723Ter
NM_001195799.1:c.2044G>T NP_001182728.1:p.Glu682Ter
NM_001195800.1:c.1663G>T NP_001182729.1:p.Glu555Ter
NM_001195803.1:c.1633G>T NP_001182732.1:p.Glu545Ter
XM_011528010.1:c.2167G>T XP_011526312.1:p.Glu723Ter
XM_011528011.1:c.1786G>T XP_011526313.1:p.Glu596Ter
XR_244074.2:n.2177G>T
XM_011528010.2:c.2167G>T XP_011526312.1:p.Glu723Ter
XR_001753685.2:n.2501G>T
XR_001753686.2:n.2144G>T
NM_000527.5:c.2167G>T MANE Select NP_000518.1:p.Glu723Ter
NM_001195798.2:c.2167G>T NP_001182727.1:p.Glu723Ter
NM_001195799.2:c.2044G>T NP_001182728.1:p.Glu682Ter
NM_001195800.2:c.1663G>T NP_001182729.1:p.Glu555Ter
NM_001195803.2:c.1633G>T NP_001182732.1:p.Glu545Ter