Canonical Allele Identifier: CA1980617511
Community Standard Title: NM_002335.4(LRP5):c.4099G= (p.Glu1367=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68436987G= , CM000673.2:g.68436987G= GRCh38
NC_000011.9:g.68204455G= , CM000673.1:g.68204455G= GRCh37
NC_000011.8:g.67961031G= NCBI36
NG_015835.1:g.129348G=
NG_015835.2:g.129348G=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.4099G= MANE Select NP_002326.2:p.Glu1367=
ENST00000294304.12:c.4099G= MANE Select ENSP00000294304.6:p.Glu1367=
NM_001291902.1:c.2356G= NP_001278831.1:p.Glu786=
NM_001291902.2:c.2356G= NP_001278831.1:p.Glu786=
NM_002335.3:c.4099G= NP_002326.2:p.Glu1367=
ENST00000294304.11:c.4099G= ENSP00000294304.6:p.Glu1367=
ENST00000529993.5:c.*2705G= ENSP00000436652.1:n.*2705G=
XM_005273994.2:c.4099G= XP_005274051.1:p.Glu1367=
XM_011545029.1:c.4126G= XP_011543331.1:p.Glu1376=
XM_011545030.1:c.4126G= XP_011543332.1:p.Glu1376=
XM_011545031.1:c.4126G= XP_011543333.1:p.Glu1376=
XM_017017735.1:c.2356G= XP_016873224.1:p.Glu786=
XM_017017736.1:c.1639G= XP_016873225.1:p.Glu547=
XR_949925.1:n.4141G=
XR_949925.2:n.4141G=
XR_949926.1:n.4141G=
XR_949926.2:n.4141G=