Canonical Allele Identifier: CA1980608056
Community Standard Title: NM_002335.4(LRP5):c.3107G= (p.Arg1036=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.3107G= MANE Select NP_002326.2:p.Arg1036=
ENST00000294304.12:c.3107G= MANE Select ENSP00000294304.6:p.Arg1036=
NM_001291902.1:c.1364G= NP_001278831.1:p.Arg455=
NM_001291902.2:c.1364G= NP_001278831.1:p.Arg455=
NM_002335.3:c.3107G= NP_002326.2:p.Arg1036=
ENST00000294304.11:c.3107G= ENSP00000294304.6:p.Arg1036=
ENST00000529993.5:c.*1713G= ENSP00000436652.1:n.*1713G=
XM_005273994.2:c.3107G= XP_005274051.1:p.Arg1036=
XM_011545029.1:c.3134G= XP_011543331.1:p.Arg1045=
XM_011545030.1:c.3134G= XP_011543332.1:p.Arg1045=
XM_011545031.1:c.3134G= XP_011543333.1:p.Arg1045=
XM_017017735.1:c.1364G= XP_016873224.1:p.Arg455=
XM_017017736.1:c.647G= XP_016873225.1:p.Arg216=
XR_949925.1:n.3149G=
XR_949925.2:n.3149G=
XR_949926.1:n.3149G=
XR_949926.2:n.3149G=