Canonical Allele Identifier: CA1980639910
Community Standard Title: NM_002335.4(LRP5):c.685C= (p.Arg229=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357846C= , CM000673.2:g.68357846C= GRCh38
NC_000011.9:g.68125314C= , CM000673.1:g.68125314C= GRCh37
NC_000011.8:g.67881890C= NCBI36
NG_015835.1:g.50207C=
NG_015835.2:g.50207C=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.685C= MANE Select NP_002326.2:p.Arg229=
ENST00000294304.12:c.685C= MANE Select ENSP00000294304.6:p.Arg229=
NM_001291902.1:c.-1081C= NP_001278831.1:n.-1081C=
NM_001291902.2:c.-1081C= NP_001278831.1:n.-1081C=
NM_002335.3:c.685C= NP_002326.2:p.Arg229=
ENST00000294304.11:c.685C= ENSP00000294304.6:p.Arg229=
ENST00000529993.5:c.685C= ENSP00000436652.1:p.Arg229=
XM_005273994.2:c.685C= XP_005274051.1:p.Arg229=
XM_011545029.1:c.712C= XP_011543331.1:p.Arg238=
XM_011545030.1:c.712C= XP_011543332.1:p.Arg238=
XM_011545031.1:c.712C= XP_011543333.1:p.Arg238=
XR_001747874.1:n.727C=
XR_949925.1:n.727C=
XR_949925.2:n.727C=
XR_949926.1:n.727C=
XR_949926.2:n.727C=