Canonical Allele Identifier: CA6149507

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1577311
• ClinVar RCV Id: RCV002087925
• dbSNP Id: rs143304197
• ExAC: 11:68174200 G / A
• gnomAD v2: 11-68174200-G-A
• gnomAD v3: 11-68406732-G-A
• gnomAD v4: 11-68406732-G-A
• MyVariant Identifiers: chr11:g.68174200G>A (hg19) ; chr11:g.68406732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406732G>A , CM000673.2:g.68406732G>A	GRCh38
NC_000011.9:g.68174200G>A , CM000673.1:g.68174200G>A	GRCh37
NC_000011.8:g.67930776G>A	NCBI36
NG_015835.1:g.99093G>A
NG_015835.2:g.99093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2010G>A MANE Select	ENSP00000294304.6:p.Pro670=
ENST00000294304.11:c.2010G>A	ENSP00000294304.6:p.Pro670=
ENST00000529993.5:c.*616G>A	ENSP00000436652.1:n.*616G>A
NM_001291902.1:c.267G>A	NP_001278831.1:p.Pro89=
NM_002335.3:c.2010G>A	NP_002326.2:p.Pro670=
XM_005273994.2:c.2010G>A	XP_005274051.1:p.Pro670=
XM_011545029.1:c.2037G>A	XP_011543331.1:p.Pro679=
XM_011545030.1:c.2037G>A	XP_011543332.1:p.Pro679=
XM_011545031.1:c.2037G>A	XP_011543333.1:p.Pro679=
XR_949925.1:n.2052G>A
XR_949926.1:n.2052G>A
XM_017017735.1:c.267G>A	XP_016873224.1:p.Pro89=
XR_001747874.1:n.2052G>A
XR_949925.2:n.2052G>A
XR_949926.2:n.2052G>A
NM_002335.4:c.2010G>A MANE Select	NP_002326.2:p.Pro670=
NM_001291902.2:c.267G>A	NP_001278831.1:p.Pro89=