Canonical Allele Identifier: CA6150463

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448832C>T , CM000673.2:g.68448832C>T	GRCh38
NC_000011.9:g.68216300C>T , CM000673.1:g.68216300C>T	GRCh37
NC_000011.8:g.67972876C>T	NCBI36
NG_015835.1:g.141193C>T
NG_015835.2:g.141193C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.4610C>T MANE Select	NP_002326.2:p.Ala1537Val
ENST00000294304.12:c.4610C>T MANE Select	ENSP00000294304.6:p.Ala1537Val
NM_001291902.1:c.2867C>T	NP_001278831.1:p.Ala956Val
NM_001291902.2:c.2867C>T	NP_001278831.1:p.Ala956Val
NM_002335.3:c.4610C>T	NP_002326.2:p.Ala1537Val
ENST00000294304.11:c.4610C>T	ENSP00000294304.6:p.Ala1537Val
ENST00000529481.1:n.201C>T
ENST00000529702.1:c.280C>T
ENST00000529993.5:c.*3216C>T	ENSP00000436652.1:n.*3216C>T
XM_005273994.2:c.4724C>T	XP_005274051.1:p.Ala1575Val
XM_011545029.1:c.4751C>T	XP_011543331.1:p.Ala1584Val
XM_011545030.1:c.4637C>T	XP_011543332.1:p.Ala1546Val
XM_011545031.1:c.4767C>T	XP_011543333.1:p.Gly1589=
XM_017017735.1:c.2981C>T	XP_016873224.1:p.Ala994Val
XM_017017736.1:c.2264C>T	XP_016873225.1:p.Ala755Val
XR_949925.1:n.4997C>T
XR_949925.2:n.4997C>T
XR_949926.1:n.5013C>T
XR_949926.2:n.5013C>T