Canonical Allele Identifier: CA213422
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6276
ClinVar RCV Id: RCV000006654 RCV000086953 RCV000250939 RCV002276535 RCV002276536 RCV002496286
dbSNP Id: rs4988321
ExAC: 11:68174189 G / A
gnomAD v2: 11-68174189-G-A
gnomAD v3: 11-68406721-G-A
gnomAD v4: 11-68406721-G-A
MyVariant Identifiers: chr11:g.68174189G>A (hg19) chr11:g.68406721G>A (hg38)
PubMed: PMID:11719191
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406721G>A , CM000673.2:g.68406721G>A GRCh38
NC_000011.9:g.68174189G>A , CM000673.1:g.68174189G>A GRCh37
NC_000011.8:g.67930765G>A NCBI36
NG_015835.1:g.99082G>A
NG_015835.2:g.99082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1999G>A MANE Select ENSP00000294304.6:p.Val667Met
ENST00000294304.11:c.1999G>A ENSP00000294304.6:p.Val667Met
ENST00000529993.5:c.*605G>A ENSP00000436652.1:n.*605G>A
NM_001291902.1:c.256G>A NP_001278831.1:p.Val86Met
NM_002335.3:c.1999G>A NP_002326.2:p.Val667Met
XM_005273994.2:c.1999G>A XP_005274051.1:p.Val667Met
XM_011545029.1:c.2026G>A XP_011543331.1:p.Val676Met
XM_011545030.1:c.2026G>A XP_011543332.1:p.Val676Met
XM_011545031.1:c.2026G>A XP_011543333.1:p.Val676Met
XR_949925.1:n.2041G>A
XR_949926.1:n.2041G>A
XM_017017735.1:c.256G>A XP_016873224.1:p.Val86Met
XR_001747874.1:n.2041G>A
XR_949925.2:n.2041G>A
XR_949926.2:n.2041G>A
NM_002335.4:c.1999G>A MANE Select NP_002326.2:p.Val667Met
NM_001291902.2:c.256G>A NP_001278831.1:p.Val86Met
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