Canonical Allele Identifier: CA2322770759
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111594G= , CM000681.2:g.11111594G= GRCh38
NC_000019.9:g.11222270G= , CM000681.1:g.11222270G= GRCh37
NC_000019.8:g.11083270G= NCBI36
NG_009060.1:g.27214G= , LRG_274:g.27214G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1399G= ENSP00000252444.6:p.Glu467=
ENST00000559340.2:c.1141G= ENSP00000453696.2:p.Glu381=
ENST00000560467.2:c.1021G= ENSP00000453513.2:p.Glu341=
ENST00000558518.6:c.1141G= MANE Select ENSP00000454071.1:p.Glu381=
ENST00000252444.9:c.1395G=
ENST00000455727.6:c.637G= ENSP00000397829.2:p.Glu213=
ENST00000535915.5:c.1018G= ENSP00000440520.1:p.Glu340=
ENST00000545707.5:c.760G= ENSP00000437639.1:p.Glu254=
ENST00000557933.5:c.1141G= ENSP00000453557.1:p.Glu381=
ENST00000558013.5:c.1141G= ENSP00000453346.1:p.Glu381=
ENST00000558518.5:c.1141G= ENSP00000454071.1:p.Glu381=
ENST00000560173.1:n.140G=
ENST00000560467.1:c.621G=
NM_000527.4:c.1141G= , LRG_274t1:c.1141G= NP_000518.1:p.Glu381=
NM_001195798.1:c.1141G= NP_001182727.1:p.Glu381=
NM_001195799.1:c.1018G= NP_001182728.1:p.Glu340=
NM_001195800.1:c.637G= NP_001182729.1:p.Glu213=
NM_001195803.1:c.760G= NP_001182732.1:p.Glu254=
XM_011528010.1:c.1141G= XP_011526312.1:p.Glu381=
XM_011528011.1:c.760G= XP_011526313.1:p.Glu254=
XR_244074.2:n.1291G=
XM_011528010.2:c.1141G= XP_011526312.1:p.Glu381=
XR_001753685.2:n.1258G=
XR_001753686.2:n.1258G=
NM_000527.5:c.1141G= MANE Select NP_000518.1:p.Glu381=
NM_001195798.2:c.1141G= NP_001182727.1:p.Glu381=
NM_001195799.2:c.1018G= NP_001182728.1:p.Glu340=
NM_001195800.2:c.637G= NP_001182729.1:p.Glu213=
NM_001195803.2:c.760G= NP_001182732.1:p.Glu254=