Canonical Allele Identifier: CA404079085
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 523724
dbSNP Id: rs1208216597

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105590G>C , CM000681.2:g.11105590G>C GRCh38
NC_000019.9:g.11216266G>C , CM000681.1:g.11216266G>C GRCh37
NC_000019.8:g.11077266G>C NCBI36
NG_009060.1:g.21210G>C , LRG_274:g.21210G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.942G>C ENSP00000252444.6:p.Glu314Asp
ENST00000559340.2:c.684G>C ENSP00000453696.2:p.Glu228Asp
ENST00000560467.2:c.684G>C ENSP00000453513.2:p.Glu228Asp
ENST00000558518.6:c.684G>C MANE Select ENSP00000454071.1:p.Glu228Asp
ENST00000252444.9:c.938G>C
ENST00000455727.6:c.314-1802G>C ENSP00000397829.2:n.314-1802G>C
ENST00000535915.5:c.561G>C ENSP00000440520.1:p.Glu187Asp
ENST00000545707.5:c.314-975G>C ENSP00000437639.1:n.314-975G>C
ENST00000557933.5:c.684G>C ENSP00000453557.1:p.Glu228Asp
ENST00000558013.5:c.684G>C ENSP00000453346.1:p.Glu228Asp
ENST00000558518.5:c.684G>C ENSP00000454071.1:p.Glu228Asp
ENST00000560467.1:c.284G>C
NM_000527.4:c.684G>C , LRG_274t1:c.684G>C NP_000518.1:p.Glu228Asp
NM_001195798.1:c.684G>C NP_001182727.1:p.Glu228Asp
NM_001195799.1:c.561G>C NP_001182728.1:p.Glu187Asp
NM_001195800.1:c.314-1802G>C NP_001182729.1:n.314-1802G>C
NM_001195803.1:c.314-975G>C NP_001182732.1:n.314-975G>C
XM_011528010.1:c.684G>C XP_011526312.1:p.Glu228Asp
XM_011528011.1:c.314-975G>C XP_011526313.1:n.314-975G>C
XR_244074.2:n.834G>C
XM_011528010.2:c.684G>C XP_011526312.1:p.Glu228Asp
XR_001753685.2:n.801G>C
XR_001753686.2:n.801G>C
NM_000527.5:c.684G>C MANE Select NP_000518.1:p.Glu228Asp
NM_001195798.2:c.684G>C NP_001182727.1:p.Glu228Asp
NM_001195799.2:c.561G>C NP_001182728.1:p.Glu187Asp
NM_001195800.2:c.314-1802G>C NP_001182729.1:n.314-1802G>C
NM_001195803.2:c.314-975G>C NP_001182732.1:n.314-975G>C