Canonical Allele Identifier: CA1980596136
Community Standard Title: NM_002335.4(LRP5):c.2457C= (p.Tyr819=)
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68411574C= , CM000673.2:g.68411574C= GRCh38
NC_000011.9:g.68179042C= , CM000673.1:g.68179042C= GRCh37
NC_000011.8:g.67935618C= NCBI36
NG_015835.1:g.103935C=
NG_015835.2:g.103935C=

Transcript Alleles

HGVS Amino-acid Change
NM_002335.4:c.2457C= MANE Select NP_002326.2:p.Tyr819=
ENST00000294304.12:c.2457C= MANE Select ENSP00000294304.6:p.Tyr819=
NM_001291902.1:c.714C= NP_001278831.1:p.Tyr238=
NM_001291902.2:c.714C= NP_001278831.1:p.Tyr238=
NM_002335.3:c.2457C= NP_002326.2:p.Tyr819=
ENST00000294304.11:c.2457C= ENSP00000294304.6:p.Tyr819=
ENST00000528714.1:n.251C=
ENST00000529993.5:c.*1063C= ENSP00000436652.1:n.*1063C=
XM_005273994.2:c.2457C= XP_005274051.1:p.Tyr819=
XM_011545029.1:c.2484C= XP_011543331.1:p.Tyr828=
XM_011545030.1:c.2484C= XP_011543332.1:p.Tyr828=
XM_011545031.1:c.2484C= XP_011543333.1:p.Tyr828=
XM_017017735.1:c.714C= XP_016873224.1:p.Tyr238=
XR_001747874.1:n.2499C=
XR_949925.1:n.2499C=
XR_949925.2:n.2499C=
XR_949926.1:n.2499C=
XR_949926.2:n.2499C=