Canonical Allele Identifier: CA2574900827
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403765T>A , CM000673.2:g.68403765T>A GRCh38
NC_000011.9:g.68171233T>A , CM000673.1:g.68171233T>A GRCh37
NC_000011.8:g.67927809T>A NCBI36
NG_015835.1:g.96126T>A
NG_015835.2:g.96126T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+66T>A MANE Select ENSP00000294304.6:n.1801+66T>A
ENST00000294304.11:c.1801+66T>A ENSP00000294304.6:n.1801+66T>A
ENST00000529993.5:c.*213+66T>A ENSP00000436652.1:n.*213+66T>A
NM_001291902.1:c.-137+66T>A NP_001278831.1:n.-137+66T>A
NM_002335.3:c.1801+66T>A NP_002326.2:n.1801+66T>A
XM_005273994.2:c.1801+66T>A XP_005274051.1:n.1801+66T>A
XM_011545029.1:c.1828+66T>A XP_011543331.1:n.1828+66T>A
XM_011545030.1:c.1828+66T>A XP_011543332.1:n.1828+66T>A
XM_011545031.1:c.1828+66T>A XP_011543333.1:n.1828+66T>A
XR_949925.1:n.1843+66T>A
XR_949926.1:n.1843+66T>A
XR_001747874.1:n.1843+66T>A
XR_949925.2:n.1843+66T>A
XR_949926.2:n.1843+66T>A
NM_002335.4:c.1801+66T>A MANE Select NP_002326.2:n.1801+66T>A
NM_001291902.2:c.-137+66T>A NP_001278831.1:n.-137+66T>A