Canonical Allele Identifier: CA2574900851

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2137180
• ClinVar RCV Id: RCV003037414
• gnomAD v4: 11-68406549-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406555dup , CM000673.2:g.68406555dup	GRCh38
NC_000011.9:g.68174023dup , CM000673.1:g.68174023dup	GRCh37
NC_000011.8:g.67930599dup	NCBI36
NG_015835.1:g.98916dup
NG_015835.2:g.98916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1833dup MANE Select	ENSP00000294304.6:p.Cys612ValfsTer25
ENST00000294304.11:c.1833dup	ENSP00000294304.6:p.Cys612ValfsTer25
ENST00000529993.5:c.*439dup	ENSP00000436652.1:n.*439dup
NM_001291902.1:c.90dup	NP_001278831.1:p.Cys31ValfsTer25
NM_002335.3:c.1833dup	NP_002326.2:p.Cys612ValfsTer25
XM_005273994.2:c.1833dup	XP_005274051.1:p.Cys612ValfsTer25
XM_011545029.1:c.1860dup	XP_011543331.1:p.Cys621ValfsTer25
XM_011545030.1:c.1860dup	XP_011543332.1:p.Cys621ValfsTer25
XM_011545031.1:c.1860dup	XP_011543333.1:p.Cys621ValfsTer25
XR_949925.1:n.1875dup
XR_949926.1:n.1875dup
XM_017017735.1:c.90dup	XP_016873224.1:p.Cys31ValfsTer25
XR_001747874.1:n.1875dup
XR_949925.2:n.1875dup
XR_949926.2:n.1875dup
NM_002335.4:c.1833dup MANE Select	NP_002326.2:p.Cys612ValfsTer25
NM_001291902.2:c.90dup	NP_001278831.1:p.Cys31ValfsTer25