Canonical Allele Identifier: CA381616762
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68446439C>G , CM000673.2:g.68446439C>G GRCh38
NC_000011.9:g.68213907C>G , CM000673.1:g.68213907C>G GRCh37
NC_000011.8:g.67970483C>G NCBI36
NG_015835.1:g.138800C>G
NG_015835.2:g.138800C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.4492C>G MANE Select ENSP00000294304.6:p.Leu1498Val
ENST00000294304.11:c.4492C>G ENSP00000294304.6:p.Leu1498Val
ENST00000529702.1:c.162C>G
ENST00000529993.5:c.*3098C>G ENSP00000436652.1:n.*3098C>G
NM_001291902.1:c.2749C>G NP_001278831.1:p.Leu917Val
NM_002335.3:c.4492C>G NP_002326.2:p.Leu1498Val
XM_005273994.2:c.4606C>G XP_005274051.1:p.Leu1536Val
XM_011545029.1:c.4633C>G XP_011543331.1:p.Leu1545Val
XM_011545030.1:c.4519C>G XP_011543332.1:p.Leu1507Val
XM_011545031.1:c.4649C>G XP_011543333.1:p.Pro1550Arg
XR_949925.1:n.4648C>G
XR_949926.1:n.4664C>G
XM_017017735.1:c.2863C>G XP_016873224.1:p.Leu955Val
XM_017017736.1:c.2146C>G XP_016873225.1:p.Leu716Val
XR_949925.2:n.4648C>G
XR_949926.2:n.4664C>G
NM_002335.4:c.4492C>G MANE Select NP_002326.2:p.Leu1498Val
NM_001291902.2:c.2749C>G NP_001278831.1:p.Leu917Val