Canonical Allele Identifier: CA6149109
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936497
ClinVar RCV Id: RCV002636451
dbSNP Id: rs751071752

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68363832C>T , CM000673.2:g.68363832C>T GRCh38
NC_000011.9:g.68131300C>T , CM000673.1:g.68131300C>T GRCh37
NC_000011.8:g.67887876C>T NCBI36
NG_015835.1:g.56193C>T
NG_015835.2:g.56193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.772C>T MANE Select ENSP00000294304.6:p.Arg258Cys
ENST00000294304.11:c.772C>T ENSP00000294304.6:p.Arg258Cys
ENST00000529993.5:c.772C>T ENSP00000436652.1:p.Arg258Cys
NM_001291902.1:c.-994C>T NP_001278831.1:n.-994C>T
NM_002335.3:c.772C>T NP_002326.2:p.Arg258Cys
XM_005273994.2:c.772C>T XP_005274051.1:p.Arg258Cys
XM_011545029.1:c.799C>T XP_011543331.1:p.Arg267Cys
XM_011545030.1:c.799C>T XP_011543332.1:p.Arg267Cys
XM_011545031.1:c.799C>T XP_011543333.1:p.Arg267Cys
XR_949925.1:n.814C>T
XR_949926.1:n.814C>T
XR_001747874.1:n.814C>T
XR_949925.2:n.814C>T
XR_949926.2:n.814C>T
NM_002335.4:c.772C>T MANE Select NP_002326.2:p.Arg258Cys
NM_001291902.2:c.-994C>T NP_001278831.1:n.-994C>T