Canonical Allele Identifier: CA381613625
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68433629T>A , CM000673.2:g.68433629T>A GRCh38
NC_000011.9:g.68201097T>A , CM000673.1:g.68201097T>A GRCh37
NC_000011.8:g.67957673T>A NCBI36
NG_015835.1:g.125990T>A
NG_015835.2:g.125990T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.3791T>A MANE Select ENSP00000294304.6:p.Phe1264Tyr
ENST00000294304.11:c.3791T>A ENSP00000294304.6:p.Phe1264Tyr
ENST00000529993.5:c.*2397T>A ENSP00000436652.1:n.*2397T>A
NM_001291902.1:c.2048T>A NP_001278831.1:p.Phe683Tyr
NM_002335.3:c.3791T>A NP_002326.2:p.Phe1264Tyr
XM_005273994.2:c.3791T>A XP_005274051.1:p.Phe1264Tyr
XM_011545029.1:c.3818T>A XP_011543331.1:p.Phe1273Tyr
XM_011545030.1:c.3818T>A XP_011543332.1:p.Phe1273Tyr
XM_011545031.1:c.3818T>A XP_011543333.1:p.Phe1273Tyr
XR_949925.1:n.3833T>A
XR_949926.1:n.3833T>A
XM_017017735.1:c.2048T>A XP_016873224.1:p.Phe683Tyr
XM_017017736.1:c.1331T>A XP_016873225.1:p.Phe444Tyr
XR_949925.2:n.3833T>A
XR_949926.2:n.3833T>A
NM_002335.4:c.3791T>A MANE Select NP_002326.2:p.Phe1264Tyr
NM_001291902.2:c.2048T>A NP_001278831.1:p.Phe683Tyr