Canonical Allele Identifier: CA2322771680
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113278G= , CM000681.2:g.11113278G= GRCh38
NC_000019.9:g.11223954G= , CM000681.1:g.11223954G= GRCh37
NC_000019.8:g.11084954G= NCBI36
NG_009060.1:g.28898G= , LRG_274:g.28898G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1445G= ENSP00000252444.6:p.Gly482=
ENST00000559340.2:c.1187G= ENSP00000453696.2:p.Gly396=
ENST00000560467.2:c.1067G= ENSP00000453513.2:p.Gly356=
ENST00000558518.6:c.1187G= MANE Select ENSP00000454071.1:p.Gly396=
ENST00000252444.9:c.1441G=
ENST00000455727.6:c.683G= ENSP00000397829.2:p.Gly228=
ENST00000535915.5:c.1064G= ENSP00000440520.1:p.Gly355=
ENST00000545707.5:c.806G= ENSP00000437639.1:p.Gly269=
ENST00000557933.5:c.1187G= ENSP00000453557.1:p.Gly396=
ENST00000558013.5:c.1187G= ENSP00000453346.1:p.Gly396=
ENST00000558518.5:c.1187G= ENSP00000454071.1:p.Gly396=
ENST00000560173.1:n.186G=
ENST00000560467.1:c.667G=
NM_000527.4:c.1187G= , LRG_274t1:c.1187G= NP_000518.1:p.Gly396=
NM_001195798.1:c.1187G= NP_001182727.1:p.Gly396=
NM_001195799.1:c.1064G= NP_001182728.1:p.Gly355=
NM_001195800.1:c.683G= NP_001182729.1:p.Gly228=
NM_001195803.1:c.806G= NP_001182732.1:p.Gly269=
XM_011528010.1:c.1187G= XP_011526312.1:p.Gly396=
XM_011528011.1:c.806G= XP_011526313.1:p.Gly269=
XR_244074.2:n.1337G=
XM_011528010.2:c.1187G= XP_011526312.1:p.Gly396=
XR_001753685.2:n.1304G=
XR_001753686.2:n.1304G=
NM_000527.5:c.1187G= MANE Select NP_000518.1:p.Gly396=
NM_001195798.2:c.1187G= NP_001182727.1:p.Gly396=
NM_001195799.2:c.1064G= NP_001182728.1:p.Gly355=
NM_001195800.2:c.683G= NP_001182729.1:p.Gly228=
NM_001195803.2:c.806G= NP_001182732.1:p.Gly269=