Canonical Allele Identifier: CA475516432

Gene: LRP5

Linked Data

• dbSNP Id: rs1267421437
• gnomAD v2: 11-68174203-C-T
• gnomAD v3: 11-68406735-C-T
• gnomAD v4: 11-68406735-C-T
• COSMIC: COSM1298519
• MyVariant Identifiers: chr11:g.68174203C>T (hg19) ; chr11:g.68406735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406735C>T , CM000673.2:g.68406735C>T	GRCh38
NC_000011.9:g.68174203C>T , CM000673.1:g.68174203C>T	GRCh37
NC_000011.8:g.67930779C>T	NCBI36
NG_015835.1:g.99096C>T
NG_015835.2:g.99096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2013C>T MANE Select	ENSP00000294304.6:p.Leu671=
ENST00000294304.11:c.2013C>T	ENSP00000294304.6:p.Leu671=
ENST00000529993.5:c.*619C>T	ENSP00000436652.1:n.*619C>T
NM_001291902.1:c.270C>T	NP_001278831.1:p.Leu90=
NM_002335.3:c.2013C>T	NP_002326.2:p.Leu671=
XM_005273994.2:c.2013C>T	XP_005274051.1:p.Leu671=
XM_011545029.1:c.2040C>T	XP_011543331.1:p.Leu680=
XM_011545030.1:c.2040C>T	XP_011543332.1:p.Leu680=
XM_011545031.1:c.2040C>T	XP_011543333.1:p.Leu680=
XR_949925.1:n.2055C>T
XR_949926.1:n.2055C>T
XM_017017735.1:c.270C>T	XP_016873224.1:p.Leu90=
XR_001747874.1:n.2055C>T
XR_949925.2:n.2055C>T
XR_949926.2:n.2055C>T
NM_002335.4:c.2013C>T MANE Select	NP_002326.2:p.Leu671=
NM_001291902.2:c.270C>T	NP_001278831.1:p.Leu90=