Canonical Allele Identifier: CA6150180
Gene: LRP5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 258640
dbSNP Id: rs3736228

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68433827C>T , CM000673.2:g.68433827C>T GRCh38
NC_000011.9:g.68201295C>T , CM000673.1:g.68201295C>T GRCh37
NC_000011.8:g.67957871C>T NCBI36
NG_015835.1:g.126188C>T
NG_015835.2:g.126188C>T

Transcript Alleles

HGVS Amino-acid change
NM_001291902.1:c.2246C>T VV NP_001278831.1:p.Ala749Val
NM_002335.3:c.3989C>T VV NP_002326.2:p.Ala1330Val
XM_005273994.2:c.3989C>T XP_005274051.1:p.Ala1330Val
XM_011545029.1:c.4016C>T XP_011543331.1:p.Ala1339Val
XM_011545030.1:c.4016C>T XP_011543332.1:p.Ala1339Val
XM_011545031.1:c.4016C>T XP_011543333.1:p.Ala1339Val
XR_949925.1:n.4031C>T
XR_949926.1:n.4031C>T
XM_017017735.1:c.2246C>T XP_016873224.1:p.Ala749Val
XM_017017736.1:c.1529C>T XP_016873225.1:p.Ala510Val
XR_949925.2:n.4031C>T
XR_949926.2:n.4031C>T
NM_002335.4:c.3989C>T VV MANE Preferred NP_002326.2:p.Ala1330Val
ENST00000294304.11:c.3989C>T ENSP00000294304.6:p.Ala1330Val
ENST00000529993.5:c.*2595C>T ENSP00000436652.1:p.=