Canonical Allele Identifier: CA381612157
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68386363A>G , CM000673.2:g.68386363A>G GRCh38
NC_000011.9:g.68153831A>G , CM000673.1:g.68153831A>G GRCh37
NC_000011.8:g.67910407A>G NCBI36
NG_015835.1:g.78724A>G
NG_015835.2:g.78724A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1063A>G MANE Select ENSP00000294304.6:p.Ile355Val
ENST00000294304.11:c.1063A>G ENSP00000294304.6:p.Ile355Val
ENST00000529993.5:c.1063A>G ENSP00000436652.1:p.Ile355Val
NM_001291902.1:c.-703A>G NP_001278831.1:n.-703A>G
NM_002335.3:c.1063A>G NP_002326.2:p.Ile355Val
XM_005273994.2:c.1063A>G XP_005274051.1:p.Ile355Val
XM_011545029.1:c.1090A>G XP_011543331.1:p.Ile364Val
XM_011545030.1:c.1090A>G XP_011543332.1:p.Ile364Val
XM_011545031.1:c.1090A>G XP_011543333.1:p.Ile364Val
XR_949925.1:n.1105A>G
XR_949926.1:n.1105A>G
XR_001747874.1:n.1105A>G
XR_949925.2:n.1105A>G
XR_949926.2:n.1105A>G
NM_002335.4:c.1063A>G MANE Select NP_002326.2:p.Ile355Val
NM_001291902.2:c.-703A>G NP_001278831.1:n.-703A>G