Canonical Allele Identifier: CA1980651509
Community Standard Title: NM_002335.4(LRP5):c.1604C= (p.Thr535=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403502C= , CM000673.2:g.68403502C= GRCh38
NC_000011.9:g.68170970C= , CM000673.1:g.68170970C= GRCh37
NC_000011.8:g.67927546C= NCBI36
NG_015835.1:g.95863C=
NG_015835.2:g.95863C=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.1604C= MANE Select NP_002326.2:p.Thr535=
ENST00000294304.12:c.1604C= MANE Select ENSP00000294304.6:p.Thr535=
NM_001291902.1:c.-334C= NP_001278831.1:n.-334C=
NM_001291902.2:c.-334C= NP_001278831.1:n.-334C=
NM_002335.3:c.1604C= NP_002326.2:p.Thr535=
ENST00000294304.11:c.1604C= ENSP00000294304.6:p.Thr535=
ENST00000529993.5:c.*16C= ENSP00000436652.1:n.*16C=
XM_005273994.2:c.1604C= XP_005274051.1:p.Thr535=
XM_011545029.1:c.1631C= XP_011543331.1:p.Thr544=
XM_011545030.1:c.1631C= XP_011543332.1:p.Thr544=
XM_011545031.1:c.1631C= XP_011543333.1:p.Thr544=
XR_001747874.1:n.1646C=
XR_949925.1:n.1646C=
XR_949925.2:n.1646C=
XR_949926.1:n.1646C=
XR_949926.2:n.1646C=