Canonical Allele Identifier: CA224268348

Gene: LRP5

Linked Data

• dbSNP Id: rs995559075
• gnomAD v2: 11-68174171-G-A
• gnomAD v4: 11-68406703-G-A
• MyVariant Identifiers: chr11:g.68174171G>A (hg19) ; chr11:g.68406703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406703G>A , CM000673.2:g.68406703G>A	GRCh38
NC_000011.9:g.68174171G>A , CM000673.1:g.68174171G>A	GRCh37
NC_000011.8:g.67930747G>A	NCBI36
NG_015835.1:g.99064G>A
NG_015835.2:g.99064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1981G>A MANE Select	ENSP00000294304.6:p.Glu661Lys
ENST00000294304.11:c.1981G>A	ENSP00000294304.6:p.Glu661Lys
ENST00000529993.5:c.*587G>A	ENSP00000436652.1:n.*587G>A
NM_001291902.1:c.238G>A	NP_001278831.1:p.Glu80Lys
NM_002335.3:c.1981G>A	NP_002326.2:p.Glu661Lys
XM_005273994.2:c.1981G>A	XP_005274051.1:p.Glu661Lys
XM_011545029.1:c.2008G>A	XP_011543331.1:p.Glu670Lys
XM_011545030.1:c.2008G>A	XP_011543332.1:p.Glu670Lys
XM_011545031.1:c.2008G>A	XP_011543333.1:p.Glu670Lys
XR_949925.1:n.2023G>A
XR_949926.1:n.2023G>A
XM_017017735.1:c.238G>A	XP_016873224.1:p.Glu80Lys
XR_001747874.1:n.2023G>A
XR_949925.2:n.2023G>A
XR_949926.2:n.2023G>A
NM_002335.4:c.1981G>A MANE Select	NP_002326.2:p.Glu661Lys
NM_001291902.2:c.238G>A	NP_001278831.1:p.Glu80Lys