Canonical Allele Identifier: CA6149036

Gene: LRP5

Linked Data

• dbSNP Id: rs770383372
• ExAC: 11:68125129 G / T
• gnomAD v2: 11-68125129-G-T
• gnomAD v4: 11-68357661-G-T
• MyVariant Identifiers: chr11:g.68125129G>T (hg19) ; chr11:g.68357661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357661G>T , CM000673.2:g.68357661G>T	GRCh38
NC_000011.9:g.68125129G>T , CM000673.1:g.68125129G>T	GRCh37
NC_000011.8:g.67881705G>T	NCBI36
NG_015835.1:g.50022G>T
NG_015835.2:g.50022G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.500G>T MANE Select	ENSP00000294304.6:p.Trp167Leu
ENST00000294304.11:c.500G>T	ENSP00000294304.6:p.Trp167Leu
ENST00000529993.5:c.500G>T	ENSP00000436652.1:p.Trp167Leu
NM_001291902.1:c.-1266G>T	NP_001278831.1:n.-1266G>T
NM_002335.3:c.500G>T	NP_002326.2:p.Trp167Leu
XM_005273994.2:c.500G>T	XP_005274051.1:p.Trp167Leu
XM_011545029.1:c.527G>T	XP_011543331.1:p.Trp176Leu
XM_011545030.1:c.527G>T	XP_011543332.1:p.Trp176Leu
XM_011545031.1:c.527G>T	XP_011543333.1:p.Trp176Leu
XR_949925.1:n.542G>T
XR_949926.1:n.542G>T
XR_001747874.1:n.542G>T
XR_949925.2:n.542G>T
XR_949926.2:n.542G>T
NM_002335.4:c.500G>T MANE Select	NP_002326.2:p.Trp167Leu
NM_001291902.2:c.-1266G>T	NP_001278831.1:n.-1266G>T