Canonical Allele Identifier: CA1980656703
Community Standard Title: NM_002335.4(LRP5):c.4651G= (p.Asp1551=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68448873G= , CM000673.2:g.68448873G= GRCh38
NC_000011.9:g.68216341G= , CM000673.1:g.68216341G= GRCh37
NC_000011.8:g.67972917G= NCBI36
NG_015835.1:g.141234G=
NG_015835.2:g.141234G=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.4651G= MANE Select NP_002326.2:p.Asp1551=
ENST00000294304.12:c.4651G= MANE Select ENSP00000294304.6:p.Asp1551=
NM_001291902.1:c.2908G= NP_001278831.1:p.Asp970=
NM_001291902.2:c.2908G= NP_001278831.1:p.Asp970=
NM_002335.3:c.4651G= NP_002326.2:p.Asp1551=
ENST00000294304.11:c.4651G= ENSP00000294304.6:p.Asp1551=
ENST00000529481.1:n.242G=
ENST00000529702.1:c.321G=
ENST00000529993.5:c.*3257G= ENSP00000436652.1:n.*3257G=
XM_005273994.2:c.4765G= XP_005274051.1:p.Asp1589=
XM_011545029.1:c.4792G= XP_011543331.1:p.Asp1598=
XM_011545030.1:c.4678G= XP_011543332.1:p.Asp1560=
XM_011545031.1:c.*5G= XP_011543333.1:n.*5G=
XM_017017735.1:c.3022G= XP_016873224.1:p.Asp1008=
XM_017017736.1:c.2305G= XP_016873225.1:p.Asp769=
XR_949925.1:n.5038G=
XR_949925.2:n.5038G=
XR_949926.1:n.5054G=
XR_949926.2:n.5054G=