Canonical Allele Identifier: CA118096
Gene: LRP5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6281
ClinVar RCV Id: RCV000006659
dbSNP Id: rs121908669
MyVariant Identifiers: chr11:g.68125140G>C (hg19) chr11:g.68357672G>C (hg38)
PubMed: PMID:11741193 PMID:12015390 PMID:12579474
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357672G>C , CM000673.2:g.68357672G>C GRCh38
NC_000011.9:g.68125140G>C , CM000673.1:g.68125140G>C GRCh37
NC_000011.8:g.67881716G>C NCBI36
NG_015835.1:g.50033G>C
NG_015835.2:g.50033G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.511G>C MANE Select ENSP00000294304.6:p.Gly171Arg
ENST00000294304.11:c.511G>C ENSP00000294304.6:p.Gly171Arg
ENST00000529993.5:c.511G>C ENSP00000436652.1:p.Gly171Arg
NM_001291902.1:c.-1255G>C NP_001278831.1:n.-1255G>C
NM_002335.3:c.511G>C NP_002326.2:p.Gly171Arg
XM_005273994.2:c.511G>C XP_005274051.1:p.Gly171Arg
XM_011545029.1:c.538G>C XP_011543331.1:p.Gly180Arg
XM_011545030.1:c.538G>C XP_011543332.1:p.Gly180Arg
XM_011545031.1:c.538G>C XP_011543333.1:p.Gly180Arg
XR_949925.1:n.553G>C
XR_949926.1:n.553G>C
XR_001747874.1:n.553G>C
XR_949925.2:n.553G>C
XR_949926.2:n.553G>C
NM_002335.4:c.511G>C MANE Select NP_002326.2:p.Gly171Arg
NM_001291902.2:c.-1255G>C NP_001278831.1:n.-1255G>C
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