Canonical Allele Identifier: CA6150414

Gene: LRP5

Linked Data

• dbSNP Id: rs773004799
• ExAC: 11:68213915 G / A
• gnomAD v2: 11-68213915-G-A
• gnomAD v3: 11-68446447-G-A
• gnomAD v4: 11-68446447-G-A
• MyVariant Identifiers: chr11:g.68213915G>A (hg19) ; chr11:g.68446447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68446447G>A , CM000673.2:g.68446447G>A	GRCh38
NC_000011.9:g.68213915G>A , CM000673.1:g.68213915G>A	GRCh37
NC_000011.8:g.67970491G>A	NCBI36
NG_015835.1:g.138808G>A
NG_015835.2:g.138808G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4500G>A MANE Select	ENSP00000294304.6:p.Pro1500=
ENST00000294304.11:c.4500G>A	ENSP00000294304.6:p.Pro1500=
ENST00000529702.1:c.170G>A
ENST00000529993.5:c.*3106G>A	ENSP00000436652.1:n.*3106G>A
NM_001291902.1:c.2757G>A	NP_001278831.1:p.Pro919=
NM_002335.3:c.4500G>A	NP_002326.2:p.Pro1500=
XM_005273994.2:c.4614G>A	XP_005274051.1:p.Pro1538=
XM_011545029.1:c.4641G>A	XP_011543331.1:p.Pro1547=
XM_011545030.1:c.4527G>A	XP_011543332.1:p.Pro1509=
XM_011545031.1:c.4657G>A	XP_011543333.1:p.Ala1553Thr
XR_949925.1:n.4656G>A
XR_949926.1:n.4672G>A
XM_017017735.1:c.2871G>A	XP_016873224.1:p.Pro957=
XM_017017736.1:c.2154G>A	XP_016873225.1:p.Pro718=
XR_949925.2:n.4656G>A
XR_949926.2:n.4672G>A
NM_002335.4:c.4500G>A MANE Select	NP_002326.2:p.Pro1500=
NM_001291902.2:c.2757G>A	NP_001278831.1:p.Pro919=