Canonical Allele Identifier: CA381615425
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406573C>A , CM000673.2:g.68406573C>A GRCh38
NC_000011.9:g.68174041C>A , CM000673.1:g.68174041C>A GRCh37
NC_000011.8:g.67930617C>A NCBI36
NG_015835.1:g.98934C>A
NG_015835.2:g.98934C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1851C>A MANE Select ENSP00000294304.6:p.Phe617Leu
ENST00000294304.11:c.1851C>A ENSP00000294304.6:p.Phe617Leu
ENST00000529993.5:c.*457C>A ENSP00000436652.1:n.*457C>A
NM_001291902.1:c.108C>A NP_001278831.1:p.Phe36Leu
NM_002335.3:c.1851C>A NP_002326.2:p.Phe617Leu
XM_005273994.2:c.1851C>A XP_005274051.1:p.Phe617Leu
XM_011545029.1:c.1878C>A XP_011543331.1:p.Phe626Leu
XM_011545030.1:c.1878C>A XP_011543332.1:p.Phe626Leu
XM_011545031.1:c.1878C>A XP_011543333.1:p.Phe626Leu
XR_949925.1:n.1893C>A
XR_949926.1:n.1893C>A
XM_017017735.1:c.108C>A XP_016873224.1:p.Phe36Leu
XR_001747874.1:n.1893C>A
XR_949925.2:n.1893C>A
XR_949926.2:n.1893C>A
NM_002335.4:c.1851C>A MANE Select NP_002326.2:p.Phe617Leu
NM_001291902.2:c.108C>A NP_001278831.1:p.Phe36Leu