Canonical Allele Identifier: CA381616761
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68446438C>G , CM000673.2:g.68446438C>G GRCh38
NC_000011.9:g.68213906C>G , CM000673.1:g.68213906C>G GRCh37
NC_000011.8:g.67970482C>G NCBI36
NG_015835.1:g.138799C>G
NG_015835.2:g.138799C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.4491C>G MANE Select ENSP00000294304.6:p.Ile1497Met
ENST00000294304.11:c.4491C>G ENSP00000294304.6:p.Ile1497Met
ENST00000529702.1:c.161C>G
ENST00000529993.5:c.*3097C>G ENSP00000436652.1:n.*3097C>G
NM_001291902.1:c.2748C>G NP_001278831.1:p.Ile916Met
NM_002335.3:c.4491C>G NP_002326.2:p.Ile1497Met
XM_005273994.2:c.4605C>G XP_005274051.1:p.Ile1535Met
XM_011545029.1:c.4632C>G XP_011543331.1:p.Ile1544Met
XM_011545030.1:c.4518C>G XP_011543332.1:p.Ile1506Met
XM_011545031.1:c.4648C>G XP_011543333.1:p.Pro1550Ala
XR_949925.1:n.4647C>G
XR_949926.1:n.4663C>G
XM_017017735.1:c.2862C>G XP_016873224.1:p.Ile954Met
XM_017017736.1:c.2145C>G XP_016873225.1:p.Ile715Met
XR_949925.2:n.4647C>G
XR_949926.2:n.4663C>G
NM_002335.4:c.4491C>G MANE Select NP_002326.2:p.Ile1497Met
NM_001291902.2:c.2748C>G NP_001278831.1:p.Ile916Met