Canonical Allele Identifier: CA1980645814
Community Standard Title: NM_002335.4(LRP5):c.731C= (p.Thr244=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68363791C= , CM000673.2:g.68363791C= GRCh38
NC_000011.9:g.68131259C= , CM000673.1:g.68131259C= GRCh37
NC_000011.8:g.67887835C= NCBI36
NG_015835.1:g.56152C=
NG_015835.2:g.56152C=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.731C= MANE Select NP_002326.2:p.Thr244=
ENST00000294304.12:c.731C= MANE Select ENSP00000294304.6:p.Thr244=
NM_001291902.1:c.-1035C= NP_001278831.1:n.-1035C=
NM_001291902.2:c.-1035C= NP_001278831.1:n.-1035C=
NM_002335.3:c.731C= NP_002326.2:p.Thr244=
ENST00000294304.11:c.731C= ENSP00000294304.6:p.Thr244=
ENST00000529993.5:c.731C= ENSP00000436652.1:p.Thr244=
XM_005273994.2:c.731C= XP_005274051.1:p.Thr244=
XM_011545029.1:c.758C= XP_011543331.1:p.Thr253=
XM_011545030.1:c.758C= XP_011543332.1:p.Thr253=
XM_011545031.1:c.758C= XP_011543333.1:p.Thr253=
XR_001747874.1:n.773C=
XR_949925.1:n.773C=
XR_949925.2:n.773C=
XR_949926.1:n.773C=
XR_949926.2:n.773C=