Canonical Allele Identifier: CA381610294
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68347966C>G , CM000673.2:g.68347966C>G GRCh38
NC_000011.9:g.68115434C>G , CM000673.1:g.68115434C>G GRCh37
NC_000011.8:g.67872010C>G NCBI36
NG_015835.1:g.40327C>G
NG_015835.2:g.40327C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.211C>G MANE Select ENSP00000294304.6:p.Gln71Glu
ENST00000294304.11:c.211C>G ENSP00000294304.6:p.Gln71Glu
ENST00000529993.5:c.211C>G ENSP00000436652.1:p.Gln71Glu
NM_001291902.1:c.-1555C>G NP_001278831.1:n.-1555C>G
NM_002335.3:c.211C>G NP_002326.2:p.Gln71Glu
XM_005273994.2:c.211C>G XP_005274051.1:p.Gln71Glu
XM_011545029.1:c.238C>G XP_011543331.1:p.Gln80Glu
XM_011545030.1:c.238C>G XP_011543332.1:p.Gln80Glu
XM_011545031.1:c.238C>G XP_011543333.1:p.Gln80Glu
XR_949925.1:n.253C>G
XR_949926.1:n.253C>G
XR_001747874.1:n.253C>G
XR_949925.2:n.253C>G
XR_949926.2:n.253C>G
NM_002335.4:c.211C>G MANE Select NP_002326.2:p.Gln71Glu
NM_001291902.2:c.-1555C>G NP_001278831.1:n.-1555C>G