Canonical Allele Identifier: CA6149506
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 593775
ClinVar RCV Id: RCV000728907
dbSNP Id: rs201207267

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406731C>T , CM000673.2:g.68406731C>T GRCh38
NC_000011.9:g.68174199C>T , CM000673.1:g.68174199C>T GRCh37
NC_000011.8:g.67930775C>T NCBI36
NG_015835.1:g.99092C>T
NG_015835.2:g.99092C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2009C>T MANE Select ENSP00000294304.6:p.Pro670Leu
ENST00000294304.11:c.2009C>T ENSP00000294304.6:p.Pro670Leu
ENST00000529993.5:c.*615C>T ENSP00000436652.1:n.*615C>T
NM_001291902.1:c.266C>T NP_001278831.1:p.Pro89Leu
NM_002335.3:c.2009C>T NP_002326.2:p.Pro670Leu
XM_005273994.2:c.2009C>T XP_005274051.1:p.Pro670Leu
XM_011545029.1:c.2036C>T XP_011543331.1:p.Pro679Leu
XM_011545030.1:c.2036C>T XP_011543332.1:p.Pro679Leu
XM_011545031.1:c.2036C>T XP_011543333.1:p.Pro679Leu
XR_949925.1:n.2051C>T
XR_949926.1:n.2051C>T
XM_017017735.1:c.266C>T XP_016873224.1:p.Pro89Leu
XR_001747874.1:n.2051C>T
XR_949925.2:n.2051C>T
XR_949926.2:n.2051C>T
NM_002335.4:c.2009C>T MANE Select NP_002326.2:p.Pro670Leu
NM_001291902.2:c.266C>T NP_001278831.1:p.Pro89Leu