Canonical Allele Identifier: CA475460262

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1573629
• ClinVar RCV Id: RCV002217763
• dbSNP Id: rs1312931779
• gnomAD v4: 11-68363801-G-A
• MyVariant Identifiers: chr11:g.68131269G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68363801G>A , CM000673.2:g.68363801G>A	GRCh38
NC_000011.9:g.68131269G>A , CM000673.1:g.68131269G>A	GRCh37
NC_000011.8:g.67887845G>A	NCBI36
NG_015835.1:g.56162G>A
NG_015835.2:g.56162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.741G>A MANE Select	ENSP00000294304.6:p.Gly247=
ENST00000294304.11:c.741G>A	ENSP00000294304.6:p.Gly247=
ENST00000529993.5:c.741G>A	ENSP00000436652.1:p.Gly247=
NM_001291902.1:c.-1025G>A	NP_001278831.1:n.-1025G>A
NM_002335.3:c.741G>A	NP_002326.2:p.Gly247=
XM_005273994.2:c.741G>A	XP_005274051.1:p.Gly247=
XM_011545029.1:c.768G>A	XP_011543331.1:p.Gly256=
XM_011545030.1:c.768G>A	XP_011543332.1:p.Gly256=
XM_011545031.1:c.768G>A	XP_011543333.1:p.Gly256=
XR_949925.1:n.783G>A
XR_949926.1:n.783G>A
XR_001747874.1:n.783G>A
XR_949925.2:n.783G>A
XR_949926.2:n.783G>A
NM_002335.4:c.741G>A MANE Select	NP_002326.2:p.Gly247=
NM_001291902.2:c.-1025G>A	NP_001278831.1:n.-1025G>A