Canonical Allele Identifier: CA224260653

Gene: LRP5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4587G>A MANE Select	ENSP00000294304.6:p.Arg1529=
ENST00000294304.11:c.4587G>A	ENSP00000294304.6:p.Arg1529=
ENST00000529481.1:n.178G>A
ENST00000529702.1:c.257G>A
ENST00000529993.5:c.*3193G>A	ENSP00000436652.1:n.*3193G>A
NM_001291902.1:c.2844G>A	NP_001278831.1:p.Arg948=
NM_002335.3:c.4587G>A	NP_002326.2:p.Arg1529=
XM_005273994.2:c.4701G>A	XP_005274051.1:p.Arg1567=
XM_011545029.1:c.4728G>A	XP_011543331.1:p.Arg1576=
XM_011545030.1:c.4614G>A	XP_011543332.1:p.Arg1538=
XM_011545031.1:c.4744G>A	XP_011543333.1:p.Ala1582Thr
XR_949925.1:n.4974G>A
XR_949926.1:n.4990G>A
XM_017017735.1:c.2958G>A	XP_016873224.1:p.Arg986=
XM_017017736.1:c.2241G>A	XP_016873225.1:p.Arg747=
XR_949925.2:n.4974G>A
XR_949926.2:n.4990G>A
NM_002335.4:c.4587G>A MANE Select	NP_002326.2:p.Arg1529=
NM_001291902.2:c.2844G>A	NP_001278831.1:p.Arg948=