Canonical Allele Identifier: CA6149466

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1922896
• ClinVar RCV Id: RCV002617848
• dbSNP Id: rs753317134
• ExAC: 11:68174010 A / G
• gnomAD v2: 11-68174010-A-G
• gnomAD v4: 11-68406542-A-G
• MyVariant Identifiers: chr11:g.68174010A>G (hg19) ; chr11:g.68406542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406542A>G , CM000673.2:g.68406542A>G	GRCh38
NC_000011.9:g.68174010A>G , CM000673.1:g.68174010A>G	GRCh37
NC_000011.8:g.67930586A>G	NCBI36
NG_015835.1:g.98903A>G
NG_015835.2:g.98903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1820A>G MANE Select	ENSP00000294304.6:p.Asp607Gly
ENST00000294304.11:c.1820A>G	ENSP00000294304.6:p.Asp607Gly
ENST00000528890.1:n.459A>G
ENST00000529993.5:c.*426A>G	ENSP00000436652.1:n.*426A>G
NM_001291902.1:c.77A>G	NP_001278831.1:p.Asp26Gly
NM_002335.3:c.1820A>G	NP_002326.2:p.Asp607Gly
XM_005273994.2:c.1820A>G	XP_005274051.1:p.Asp607Gly
XM_011545029.1:c.1847A>G	XP_011543331.1:p.Asp616Gly
XM_011545030.1:c.1847A>G	XP_011543332.1:p.Asp616Gly
XM_011545031.1:c.1847A>G	XP_011543333.1:p.Asp616Gly
XR_949925.1:n.1862A>G
XR_949926.1:n.1862A>G
XM_017017735.1:c.77A>G	XP_016873224.1:p.Asp26Gly
XR_001747874.1:n.1862A>G
XR_949925.2:n.1862A>G
XR_949926.2:n.1862A>G
NM_002335.4:c.1820A>G MANE Select	NP_002326.2:p.Asp607Gly
NM_001291902.2:c.77A>G	NP_001278831.1:p.Asp26Gly