Canonical Allele Identifier: CA381617873
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68448832C>G , CM000673.2:g.68448832C>G GRCh38
NC_000011.9:g.68216300C>G , CM000673.1:g.68216300C>G GRCh37
NC_000011.8:g.67972876C>G NCBI36
NG_015835.1:g.141193C>G
NG_015835.2:g.141193C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.4610C>G MANE Select ENSP00000294304.6:p.Ala1537Gly
ENST00000294304.11:c.4610C>G ENSP00000294304.6:p.Ala1537Gly
ENST00000529481.1:n.201C>G
ENST00000529702.1:c.280C>G
ENST00000529993.5:c.*3216C>G ENSP00000436652.1:n.*3216C>G
NM_001291902.1:c.2867C>G NP_001278831.1:p.Ala956Gly
NM_002335.3:c.4610C>G NP_002326.2:p.Ala1537Gly
XM_005273994.2:c.4724C>G XP_005274051.1:p.Ala1575Gly
XM_011545029.1:c.4751C>G XP_011543331.1:p.Ala1584Gly
XM_011545030.1:c.4637C>G XP_011543332.1:p.Ala1546Gly
XM_011545031.1:c.4767C>G XP_011543333.1:p.Gly1589=
XR_949925.1:n.4997C>G
XR_949926.1:n.5013C>G
XM_017017735.1:c.2981C>G XP_016873224.1:p.Ala994Gly
XM_017017736.1:c.2264C>G XP_016873225.1:p.Ala755Gly
XR_949925.2:n.4997C>G
XR_949926.2:n.5013C>G
NM_002335.4:c.4610C>G MANE Select NP_002326.2:p.Ala1537Gly
NM_001291902.2:c.2867C>G NP_001278831.1:p.Ala956Gly