Canonical Allele Identifier: CA2322772005
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113690G= , CM000681.2:g.11113690G= GRCh38
NC_000019.9:g.11224366G= , CM000681.1:g.11224366G= GRCh37
NC_000019.8:g.11085366G= NCBI36
NG_009060.1:g.29310G= , LRG_274:g.29310G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1772G= ENSP00000252444.6:p.Gly591=
ENST00000559340.2:c.1514G= ENSP00000453696.2:p.Gly505=
ENST00000560467.2:c.1394G= ENSP00000453513.2:p.Gly465=
ENST00000558518.6:c.1514G= MANE Select ENSP00000454071.1:p.Gly505=
ENST00000252444.9:c.1768G=
ENST00000455727.6:c.1010G= ENSP00000397829.2:p.Gly337=
ENST00000535915.5:c.1391G= ENSP00000440520.1:p.Gly464=
ENST00000545707.5:c.1133G= ENSP00000437639.1:p.Gly378=
ENST00000557933.5:c.1514G= ENSP00000453557.1:p.Gly505=
ENST00000558013.5:c.1514G= ENSP00000453346.1:p.Gly505=
ENST00000558518.5:c.1514G= ENSP00000454071.1:p.Gly505=
ENST00000559340.1:c.235G=
NM_000527.4:c.1514G= , LRG_274t1:c.1514G= NP_000518.1:p.Gly505=
NM_001195798.1:c.1514G= NP_001182727.1:p.Gly505=
NM_001195799.1:c.1391G= NP_001182728.1:p.Gly464=
NM_001195800.1:c.1010G= NP_001182729.1:p.Gly337=
NM_001195803.1:c.1133G= NP_001182732.1:p.Gly378=
XM_011528010.1:c.1514G= XP_011526312.1:p.Gly505=
XM_011528011.1:c.1133G= XP_011526313.1:p.Gly378=
XR_244074.2:n.1664G=
XM_011528010.2:c.1514G= XP_011526312.1:p.Gly505=
XR_001753685.2:n.1631G=
XR_001753686.2:n.1631G=
NM_000527.5:c.1514G= MANE Select NP_000518.1:p.Gly505=
NM_001195798.2:c.1514G= NP_001182727.1:p.Gly505=
NM_001195799.2:c.1391G= NP_001182728.1:p.Gly464=
NM_001195800.2:c.1010G= NP_001182729.1:p.Gly337=
NM_001195803.2:c.1133G= NP_001182732.1:p.Gly378=