Canonical Allele Identifier: CA224268405

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1008757
• ClinVar RCV Id: RCV001306148 ; RCV002476406
• dbSNP Id: rs543279405
• gnomAD v2: 11-68174210-G-A
• gnomAD v3: 11-68406742-G-A
• gnomAD v4: 11-68406742-G-A
• MyVariant Identifiers: chr11:g.68174210G>A (hg19) ; chr11:g.68406742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406742G>A , CM000673.2:g.68406742G>A	GRCh38
NC_000011.9:g.68174210G>A , CM000673.1:g.68174210G>A	GRCh37
NC_000011.8:g.67930786G>A	NCBI36
NG_015835.1:g.99103G>A
NG_015835.2:g.99103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2020G>A MANE Select	ENSP00000294304.6:p.Val674Ile
ENST00000294304.11:c.2020G>A	ENSP00000294304.6:p.Val674Ile
ENST00000529993.5:c.*626G>A	ENSP00000436652.1:n.*626G>A
NM_001291902.1:c.277G>A	NP_001278831.1:p.Val93Ile
NM_002335.3:c.2020G>A	NP_002326.2:p.Val674Ile
XM_005273994.2:c.2020G>A	XP_005274051.1:p.Val674Ile
XM_011545029.1:c.2047G>A	XP_011543331.1:p.Val683Ile
XM_011545030.1:c.2047G>A	XP_011543332.1:p.Val683Ile
XM_011545031.1:c.2047G>A	XP_011543333.1:p.Val683Ile
XR_949925.1:n.2062G>A
XR_949926.1:n.2062G>A
XM_017017735.1:c.277G>A	XP_016873224.1:p.Val93Ile
XR_001747874.1:n.2062G>A
XR_949925.2:n.2062G>A
XR_949926.2:n.2062G>A
NM_002335.4:c.2020G>A MANE Select	NP_002326.2:p.Val674Ile
NM_001291902.2:c.277G>A	NP_001278831.1:p.Val93Ile