Canonical Allele Identifier: CA118104

Gene: LRP5

Linked Data

• ClinVar Variation Id: 6289
• ClinVar RCV Id: RCV003555944
• dbSNP Id: rs80358312
• gnomAD v3: 11-68403607-G-A
• gnomAD v4: 11-68403607-G-A
• MyVariant Identifiers: chr11:g.68171075G>A (hg19) ; chr11:g.68403607G>A (hg38)
• PubMed: PMID:9831343 ; PMID:11719191 ; PMID:12054167 ; PMID:12579474 ; PMID:15346351 ; PMID:15824851 ; PMID:20652025 ; PMID:22487062 ; PMID:28111184 ; PMID:28677207

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403607G>A , CM000673.2:g.68403607G>A	GRCh38
NC_000011.9:g.68171075G>A , CM000673.1:g.68171075G>A	GRCh37
NC_000011.8:g.67927651G>A	NCBI36
NG_015835.1:g.95968G>A
NG_015835.2:g.95968G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.1709G>A MANE Select	ENSP00000294304.6:p.Arg570Gln
ENST00000294304.11:c.1709G>A	ENSP00000294304.6:p.Arg570Gln
ENST00000529993.5:c.*121G>A	ENSP00000436652.1:n.*121G>A
NM_001291902.1:c.-229G>A	NP_001278831.1:n.-229G>A
NM_002335.3:c.1709G>A	NP_002326.2:p.Arg570Gln
XM_005273994.2:c.1709G>A	XP_005274051.1:p.Arg570Gln
XM_011545029.1:c.1736G>A	XP_011543331.1:p.Arg579Gln
XM_011545030.1:c.1736G>A	XP_011543332.1:p.Arg579Gln
XM_011545031.1:c.1736G>A	XP_011543333.1:p.Arg579Gln
XR_949925.1:n.1751G>A
XR_949926.1:n.1751G>A
XR_001747874.1:n.1751G>A
XR_949925.2:n.1751G>A
XR_949926.2:n.1751G>A
NM_002335.4:c.1709G>A MANE Select	NP_002326.2:p.Arg570Gln
NM_001291902.2:c.-229G>A	NP_001278831.1:n.-229G>A