Canonical Allele Identifier: CA6149238
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 736402
ClinVar RCV Id: RCV000912046 RCV002502742 RCV002279628 RCV003913027
dbSNP Id: rs200179967
ExAC: 11:68153845 G / A
gnomAD v2: 11-68153845-G-A
gnomAD v3: 11-68386377-G-A
gnomAD v4: 11-68386377-G-A
COSMIC: COSM1256784
MyVariant Identifiers: chr11:g.68153845G>A (hg19) chr11:g.68386377G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68386377G>A , CM000673.2:g.68386377G>A GRCh38
NC_000011.9:g.68153845G>A , CM000673.1:g.68153845G>A GRCh37
NC_000011.8:g.67910421G>A NCBI36
NG_015835.1:g.78738G>A
NG_015835.2:g.78738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1077G>A MANE Select ENSP00000294304.6:p.Thr359=
ENST00000294304.11:c.1077G>A ENSP00000294304.6:p.Thr359=
ENST00000529993.5:c.1077G>A ENSP00000436652.1:p.Thr359=
NM_001291902.1:c.-689G>A NP_001278831.1:n.-689G>A
NM_002335.3:c.1077G>A NP_002326.2:p.Thr359=
XM_005273994.2:c.1077G>A XP_005274051.1:p.Thr359=
XM_011545029.1:c.1104G>A XP_011543331.1:p.Thr368=
XM_011545030.1:c.1104G>A XP_011543332.1:p.Thr368=
XM_011545031.1:c.1104G>A XP_011543333.1:p.Thr368=
XR_949925.1:n.1119G>A
XR_949926.1:n.1119G>A
XR_001747874.1:n.1119G>A
XR_949925.2:n.1119G>A
XR_949926.2:n.1119G>A
NM_002335.4:c.1077G>A MANE Select NP_002326.2:p.Thr359=
NM_001291902.2:c.-689G>A NP_001278831.1:n.-689G>A
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