Canonical Allele Identifier: CA404082732
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3075220
ClinVar RCV Id: RCV004015746
dbSNP Id: rs1280496169

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110722G>T , CM000681.2:g.11110722G>T GRCh38
NC_000019.9:g.11221398G>T , CM000681.1:g.11221398G>T GRCh37
NC_000019.8:g.11082398G>T NCBI36
NG_009060.1:g.26342G>T , LRG_274:g.26342G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1269G>T ENSP00000252444.6:p.Glu423Asp
ENST00000559340.2:c.1011G>T ENSP00000453696.2:p.Glu337Asp
ENST00000560467.2:c.941-792G>T ENSP00000453513.2:n.941-792G>T
ENST00000558518.6:c.1011G>T MANE Select ENSP00000454071.1:p.Glu337Asp
ENST00000252444.9:c.1265G>T
ENST00000455727.6:c.507G>T ENSP00000397829.2:p.Glu169Asp
ENST00000535915.5:c.888G>T ENSP00000440520.1:p.Glu296Asp
ENST00000545707.5:c.630G>T ENSP00000437639.1:p.Glu210Asp
ENST00000557933.5:c.1011G>T ENSP00000453557.1:p.Glu337Asp
ENST00000558013.5:c.1011G>T ENSP00000453346.1:p.Glu337Asp
ENST00000558518.5:c.1011G>T ENSP00000454071.1:p.Glu337Asp
ENST00000560173.1:n.10G>T
ENST00000560467.1:c.541-792G>T
NM_000527.4:c.1011G>T , LRG_274t1:c.1011G>T NP_000518.1:p.Glu337Asp
NM_001195798.1:c.1011G>T NP_001182727.1:p.Glu337Asp
NM_001195799.1:c.888G>T NP_001182728.1:p.Glu296Asp
NM_001195800.1:c.507G>T NP_001182729.1:p.Glu169Asp
NM_001195803.1:c.630G>T NP_001182732.1:p.Glu210Asp
XM_011528010.1:c.1011G>T XP_011526312.1:p.Glu337Asp
XM_011528011.1:c.630G>T XP_011526313.1:p.Glu210Asp
XR_244074.2:n.1161G>T
XM_011528010.2:c.1011G>T XP_011526312.1:p.Glu337Asp
XR_001753685.2:n.1128G>T
XR_001753686.2:n.1128G>T
NM_000527.5:c.1011G>T MANE Select NP_000518.1:p.Glu337Asp
NM_001195798.2:c.1011G>T NP_001182727.1:p.Glu337Asp
NM_001195799.2:c.888G>T NP_001182728.1:p.Glu296Asp
NM_001195800.2:c.507G>T NP_001182729.1:p.Glu169Asp
NM_001195803.2:c.630G>T NP_001182732.1:p.Glu210Asp