Canonical Allele Identifier: CA210909

Gene: LRP5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4587G>C MANE Select	ENSP00000294304.6:p.Arg1529Ser
ENST00000294304.11:c.4587G>C	ENSP00000294304.6:p.Arg1529Ser
ENST00000529481.1:n.178G>C
ENST00000529702.1:c.257G>C
ENST00000529993.5:c.*3193G>C	ENSP00000436652.1:n.*3193G>C
NM_001291902.1:c.2844G>C	NP_001278831.1:p.Arg948Ser
NM_002335.3:c.4587G>C	NP_002326.2:p.Arg1529Ser
XM_005273994.2:c.4701G>C	XP_005274051.1:p.Arg1567Ser
XM_011545029.1:c.4728G>C	XP_011543331.1:p.Arg1576Ser
XM_011545030.1:c.4614G>C	XP_011543332.1:p.Arg1538Ser
XM_011545031.1:c.4744G>C	XP_011543333.1:p.Ala1582Pro
XR_949925.1:n.4974G>C
XR_949926.1:n.4990G>C
XM_017017735.1:c.2958G>C	XP_016873224.1:p.Arg986Ser
XM_017017736.1:c.2241G>C	XP_016873225.1:p.Arg747Ser
XR_949925.2:n.4974G>C
XR_949926.2:n.4990G>C
NM_002335.4:c.4587G>C MANE Select	NP_002326.2:p.Arg1529Ser
NM_001291902.2:c.2844G>C	NP_001278831.1:p.Arg948Ser