Canonical Allele Identifier: CA600238891

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1512920
• ClinVar RCV Id: RCV002018276
• dbSNP Id: rs1284857527
• gnomAD v2: 11-68173976-C-G
• gnomAD v4: 11-68406508-C-G
• MyVariant Identifiers: chr11:g.68173976C>G (hg19) ; chr11:g.68406508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406508C>G , CM000673.2:g.68406508C>G	GRCh38
NC_000011.9:g.68173976C>G , CM000673.1:g.68173976C>G	GRCh37
NC_000011.8:g.67930552C>G	NCBI36
NG_015835.1:g.98869C>G
NG_015835.2:g.98869C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1802-16C>G MANE Select	ENSP00000294304.6:n.1802-16C>G
ENST00000294304.11:c.1802-16C>G	ENSP00000294304.6:n.1802-16C>G
ENST00000528890.1:n.441-16C>G
ENST00000529993.5:c.*408-16C>G	ENSP00000436652.1:n.*408-16C>G
NM_001291902.1:c.59-16C>G	NP_001278831.1:n.59-16C>G
NM_002335.3:c.1802-16C>G	NP_002326.2:n.1802-16C>G
XM_005273994.2:c.1802-16C>G	XP_005274051.1:n.1802-16C>G
XM_011545029.1:c.1829-16C>G	XP_011543331.1:n.1829-16C>G
XM_011545030.1:c.1829-16C>G	XP_011543332.1:n.1829-16C>G
XM_011545031.1:c.1829-16C>G	XP_011543333.1:n.1829-16C>G
XR_949925.1:n.1844-16C>G
XR_949926.1:n.1844-16C>G
XM_017017735.1:c.59-16C>G	XP_016873224.1:n.59-16C>G
XR_001747874.1:n.1844-16C>G
XR_949925.2:n.1844-16C>G
XR_949926.2:n.1844-16C>G
NM_002335.4:c.1802-16C>G MANE Select	NP_002326.2:n.1802-16C>G
NM_001291902.2:c.59-16C>G	NP_001278831.1:n.59-16C>G