Canonical Allele Identifier: CA210921
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 183255
dbSNP Id: rs61889560

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68423568G>A , CM000673.2:g.68423568G>A GRCh38
NC_000011.9:g.68191036G>A , CM000673.1:g.68191036G>A GRCh37
NC_000011.8:g.67947612G>A NCBI36
NG_015835.1:g.115929G>A
NG_015835.2:g.115929G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.3107G>A MANE Select ENSP00000294304.6:p.Arg1036Gln
ENST00000294304.11:c.3107G>A ENSP00000294304.6:p.Arg1036Gln
ENST00000529993.5:c.*1713G>A ENSP00000436652.1:n.*1713G>A
NM_001291902.1:c.1364G>A NP_001278831.1:p.Arg455Gln
NM_002335.3:c.3107G>A NP_002326.2:p.Arg1036Gln
XM_005273994.2:c.3107G>A XP_005274051.1:p.Arg1036Gln
XM_011545029.1:c.3134G>A XP_011543331.1:p.Arg1045Gln
XM_011545030.1:c.3134G>A XP_011543332.1:p.Arg1045Gln
XM_011545031.1:c.3134G>A XP_011543333.1:p.Arg1045Gln
XR_949925.1:n.3149G>A
XR_949926.1:n.3149G>A
XM_017017735.1:c.1364G>A XP_016873224.1:p.Arg455Gln
XM_017017736.1:c.647G>A XP_016873225.1:p.Arg216Gln
XR_949925.2:n.3149G>A
XR_949926.2:n.3149G>A
NM_002335.4:c.3107G>A MANE Select NP_002326.2:p.Arg1036Gln
NM_001291902.2:c.1364G>A NP_001278831.1:p.Arg455Gln