Canonical Allele Identifier: CA1980635217
Community Standard Title: NM_002335.4(LRP5):c.1282C= (p.Arg428=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68386582C= , CM000673.2:g.68386582C= GRCh38
NC_000011.9:g.68154050C= , CM000673.1:g.68154050C= GRCh37
NC_000011.8:g.67910626C= NCBI36
NG_015835.1:g.78943C=
NG_015835.2:g.78943C=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.1282C= MANE Select NP_002326.2:p.Arg428=
ENST00000294304.12:c.1282C= MANE Select ENSP00000294304.6:p.Arg428=
NM_001291902.1:c.-484C= NP_001278831.1:n.-484C=
NM_001291902.2:c.-484C= NP_001278831.1:n.-484C=
NM_002335.3:c.1282C= NP_002326.2:p.Arg428=
ENST00000294304.11:c.1282C= ENSP00000294304.6:p.Arg428=
ENST00000529993.5:c.1282C= ENSP00000436652.1:p.Arg428=
XM_005273994.2:c.1282C= XP_005274051.1:p.Arg428=
XM_011545029.1:c.1309C= XP_011543331.1:p.Arg437=
XM_011545030.1:c.1309C= XP_011543332.1:p.Arg437=
XM_011545031.1:c.1309C= XP_011543333.1:p.Arg437=
XR_001747874.1:n.1324C=
XR_949925.1:n.1324C=
XR_949925.2:n.1324C=
XR_949926.1:n.1324C=
XR_949926.2:n.1324C=