Canonical Allele Identifier: CA1980666817
Community Standard Title: NM_002335.4(LRP5):c.4587G= (p.Arg1529=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68448809G= , CM000673.2:g.68448809G= GRCh38
NC_000011.9:g.68216277G= , CM000673.1:g.68216277G= GRCh37
NC_000011.8:g.67972853G= NCBI36
NG_015835.1:g.141170G=
NG_015835.2:g.141170G=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.4587G= MANE Select NP_002326.2:p.Arg1529=
ENST00000294304.12:c.4587G= MANE Select ENSP00000294304.6:p.Arg1529=
NM_001291902.1:c.2844G= NP_001278831.1:p.Arg948=
NM_001291902.2:c.2844G= NP_001278831.1:p.Arg948=
NM_002335.3:c.4587G= NP_002326.2:p.Arg1529=
ENST00000294304.11:c.4587G= ENSP00000294304.6:p.Arg1529=
ENST00000529481.1:n.178G=
ENST00000529702.1:c.257G=
ENST00000529993.5:c.*3193G= ENSP00000436652.1:n.*3193G=
XM_005273994.2:c.4701G= XP_005274051.1:p.Arg1567=
XM_011545029.1:c.4728G= XP_011543331.1:p.Arg1576=
XM_011545030.1:c.4614G= XP_011543332.1:p.Arg1538=
XM_011545031.1:c.4744G= XP_011543333.1:p.Ala1582=
XM_017017735.1:c.2958G= XP_016873224.1:p.Arg986=
XM_017017736.1:c.2241G= XP_016873225.1:p.Arg747=
XR_949925.1:n.4974G=
XR_949925.2:n.4974G=
XR_949926.1:n.4990G=
XR_949926.2:n.4990G=