Canonical Allele Identifier: CA118093
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6278
ClinVar RCV Id: RCV000006656
dbSNP Id: rs121908667

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410024G>A , CM000673.2:g.68410024G>A GRCh38
NC_000011.9:g.68177492G>A , CM000673.1:g.68177492G>A GRCh37
NC_000011.8:g.67934068G>A NCBI36
NG_015835.1:g.102385G>A
NG_015835.2:g.102385G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.2202G>A MANE Select ENSP00000294304.6:p.Trp734Ter
ENST00000294304.11:c.2202G>A ENSP00000294304.6:p.Trp734Ter
ENST00000529993.5:c.*808G>A ENSP00000436652.1:n.*808G>A
NM_001291902.1:c.459G>A NP_001278831.1:p.Trp153Ter
NM_002335.3:c.2202G>A NP_002326.2:p.Trp734Ter
XM_005273994.2:c.2202G>A XP_005274051.1:p.Trp734Ter
XM_011545029.1:c.2229G>A XP_011543331.1:p.Trp743Ter
XM_011545030.1:c.2229G>A XP_011543332.1:p.Trp743Ter
XM_011545031.1:c.2229G>A XP_011543333.1:p.Trp743Ter
XR_949925.1:n.2244G>A
XR_949926.1:n.2244G>A
XM_017017735.1:c.459G>A XP_016873224.1:p.Trp153Ter
XR_001747874.1:n.2244G>A
XR_949925.2:n.2244G>A
XR_949926.2:n.2244G>A
NM_002335.4:c.2202G>A MANE Select NP_002326.2:p.Trp734Ter
NM_001291902.2:c.459G>A NP_001278831.1:p.Trp153Ter