Canonical Allele Identifier: CA1980651749
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403614C= , CM000673.2:g.68403614C= GRCh38
NC_000011.9:g.68171082C= , CM000673.1:g.68171082C= GRCh37
NC_000011.8:g.67927658C= NCBI36
NG_015835.1:g.95975C=
NG_015835.2:g.95975C=

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.1716C= MANE Select ENSP00000294304.6:p.His572=
ENST00000294304.11:c.1716C= ENSP00000294304.6:p.His572=
ENST00000529993.5:c.*128C= ENSP00000436652.1:n.*128C=
NM_001291902.1:c.-222C= NP_001278831.1:n.-222C=
NM_002335.3:c.1716C= NP_002326.2:p.His572=
XM_005273994.2:c.1716C= XP_005274051.1:p.His572=
XM_011545029.1:c.1743C= XP_011543331.1:p.His581=
XM_011545030.1:c.1743C= XP_011543332.1:p.His581=
XM_011545031.1:c.1743C= XP_011543333.1:p.His581=
XR_949925.1:n.1758C=
XR_949926.1:n.1758C=
XR_001747874.1:n.1758C=
XR_949925.2:n.1758C=
XR_949926.2:n.1758C=
NM_002335.4:c.1716C= MANE Select NP_002326.2:p.His572=
NM_001291902.2:c.-222C= NP_001278831.1:n.-222C=