Canonical Allele Identifier: CA381611019
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68363806C>A , CM000673.2:g.68363806C>A GRCh38
NC_000011.9:g.68131274C>A , CM000673.1:g.68131274C>A GRCh37
NC_000011.8:g.67887850C>A NCBI36
NG_015835.1:g.56167C>A
NG_015835.2:g.56167C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.746C>A MANE Select ENSP00000294304.6:p.Thr249Asn
ENST00000294304.11:c.746C>A ENSP00000294304.6:p.Thr249Asn
ENST00000529993.5:c.746C>A ENSP00000436652.1:p.Thr249Asn
NM_001291902.1:c.-1020C>A NP_001278831.1:n.-1020C>A
NM_002335.3:c.746C>A NP_002326.2:p.Thr249Asn
XM_005273994.2:c.746C>A XP_005274051.1:p.Thr249Asn
XM_011545029.1:c.773C>A XP_011543331.1:p.Thr258Asn
XM_011545030.1:c.773C>A XP_011543332.1:p.Thr258Asn
XM_011545031.1:c.773C>A XP_011543333.1:p.Thr258Asn
XR_949925.1:n.788C>A
XR_949926.1:n.788C>A
XR_001747874.1:n.788C>A
XR_949925.2:n.788C>A
XR_949926.2:n.788C>A
NM_002335.4:c.746C>A MANE Select NP_002326.2:p.Thr249Asn
NM_001291902.2:c.-1020C>A NP_001278831.1:n.-1020C>A