Canonical Allele Identifier: CA16609806
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403632
dbSNP Id: rs121908028

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105587C>A , CM000681.2:g.11105587C>A GRCh38
NC_000019.9:g.11216263C>A , CM000681.1:g.11216263C>A GRCh37
NC_000019.8:g.11077263C>A NCBI36
NG_009060.1:g.21207C>A , LRG_274:g.21207C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.939C>A ENSP00000252444.6:p.Asp313Glu
ENST00000559340.2:c.681C>A ENSP00000453696.2:p.Asp227Glu
ENST00000560467.2:c.681C>A ENSP00000453513.2:p.Asp227Glu
ENST00000558518.6:c.681C>A MANE Select ENSP00000454071.1:p.Asp227Glu
ENST00000252444.9:c.935C>A
ENST00000455727.6:c.314-1805C>A ENSP00000397829.2:n.314-1805C>A
ENST00000535915.5:c.558C>A ENSP00000440520.1:p.Asp186Glu
ENST00000545707.5:c.314-978C>A ENSP00000437639.1:n.314-978C>A
ENST00000557933.5:c.681C>A ENSP00000453557.1:p.Asp227Glu
ENST00000558013.5:c.681C>A ENSP00000453346.1:p.Asp227Glu
ENST00000558518.5:c.681C>A ENSP00000454071.1:p.Asp227Glu
ENST00000560467.1:c.281C>A
NM_000527.4:c.681C>A , LRG_274t1:c.681C>A NP_000518.1:p.Asp227Glu
NM_001195798.1:c.681C>A NP_001182727.1:p.Asp227Glu
NM_001195799.1:c.558C>A NP_001182728.1:p.Asp186Glu
NM_001195800.1:c.314-1805C>A NP_001182729.1:n.314-1805C>A
NM_001195803.1:c.314-978C>A NP_001182732.1:n.314-978C>A
XM_011528010.1:c.681C>A XP_011526312.1:p.Asp227Glu
XM_011528011.1:c.314-978C>A XP_011526313.1:n.314-978C>A
XR_244074.2:n.831C>A
XM_011528010.2:c.681C>A XP_011526312.1:p.Asp227Glu
XR_001753685.2:n.798C>A
XR_001753686.2:n.798C>A
NM_000527.5:c.681C>A MANE Select NP_000518.1:p.Asp227Glu
NM_001195798.2:c.681C>A NP_001182727.1:p.Asp227Glu
NM_001195799.2:c.558C>A NP_001182728.1:p.Asp186Glu
NM_001195800.2:c.314-1805C>A NP_001182729.1:n.314-1805C>A
NM_001195803.2:c.314-978C>A NP_001182732.1:n.314-978C>A