Canonical Allele Identifier: CA118095
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6280
ClinVar RCV Id: RCV000006658 RCV002276537 RCV002512843
dbSNP Id: rs121908668
gnomAD v4: 11-68357673-G-T
MyVariant Identifiers: chr11:g.68125141G>T (hg19) chr11:g.68357673G>T (hg38)
PubMed: PMID:11741193 PMID:12015390
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357673G>T , CM000673.2:g.68357673G>T GRCh38
NC_000011.9:g.68125141G>T , CM000673.1:g.68125141G>T GRCh37
NC_000011.8:g.67881717G>T NCBI36
NG_015835.1:g.50034G>T
NG_015835.2:g.50034G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.512G>T MANE Select ENSP00000294304.6:p.Gly171Val
ENST00000294304.11:c.512G>T ENSP00000294304.6:p.Gly171Val
ENST00000529993.5:c.512G>T ENSP00000436652.1:p.Gly171Val
NM_001291902.1:c.-1254G>T NP_001278831.1:n.-1254G>T
NM_002335.3:c.512G>T NP_002326.2:p.Gly171Val
XM_005273994.2:c.512G>T XP_005274051.1:p.Gly171Val
XM_011545029.1:c.539G>T XP_011543331.1:p.Gly180Val
XM_011545030.1:c.539G>T XP_011543332.1:p.Gly180Val
XM_011545031.1:c.539G>T XP_011543333.1:p.Gly180Val
XR_949925.1:n.554G>T
XR_949926.1:n.554G>T
XR_001747874.1:n.554G>T
XR_949925.2:n.554G>T
XR_949926.2:n.554G>T
NM_002335.4:c.512G>T MANE Select NP_002326.2:p.Gly171Val
NM_001291902.2:c.-1254G>T NP_001278831.1:n.-1254G>T
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