Canonical Allele Identifier: CA381615668
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406689A>C , CM000673.2:g.68406689A>C GRCh38
NC_000011.9:g.68174157A>C , CM000673.1:g.68174157A>C GRCh37
NC_000011.8:g.67930733A>C NCBI36
NG_015835.1:g.99050A>C
NG_015835.2:g.99050A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1967A>C MANE Select ENSP00000294304.6:p.His656Pro
ENST00000294304.11:c.1967A>C ENSP00000294304.6:p.His656Pro
ENST00000529993.5:c.*573A>C ENSP00000436652.1:n.*573A>C
NM_001291902.1:c.224A>C NP_001278831.1:p.His75Pro
NM_002335.3:c.1967A>C NP_002326.2:p.His656Pro
XM_005273994.2:c.1967A>C XP_005274051.1:p.His656Pro
XM_011545029.1:c.1994A>C XP_011543331.1:p.His665Pro
XM_011545030.1:c.1994A>C XP_011543332.1:p.His665Pro
XM_011545031.1:c.1994A>C XP_011543333.1:p.His665Pro
XR_949925.1:n.2009A>C
XR_949926.1:n.2009A>C
XM_017017735.1:c.224A>C XP_016873224.1:p.His75Pro
XR_001747874.1:n.2009A>C
XR_949925.2:n.2009A>C
XR_949926.2:n.2009A>C
NM_002335.4:c.1967A>C MANE Select NP_002326.2:p.His656Pro
NM_001291902.2:c.224A>C NP_001278831.1:p.His75Pro