Canonical Allele Identifier: CA130818
Gene: LRP5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68363791C>T
GRCh37 chr11:g.68131259C>T
Revel Score:
ENST00000294304 (MANE Select) 0.969
gnomAD v2:
11:68131259 C / T
gnomAD v3:
11:68363791 C / T
gnomAD v4:
chr11-68363791-C-T
Joint Max Group AF 0.00000444 (AFR)
Genomes Max Group AF 0.00000802 (AFR)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar Allele:
48772
ClinVar RCV:
RCV000033259
ClinVar Variation:
40289
dbSNP:
397514665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68363791C>T , CM000673.2:g.68363791C>T GRCh38
NC_000011.9:g.68131259C>T , CM000673.1:g.68131259C>T GRCh37
NC_000011.8:g.67887835C>T NCBI36
NG_015835.1:g.56152C>T
NG_015835.2:g.56152C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.731C>T MANE Select ENSP00000294304.6:p.Thr244Met
ENST00000294304.11:c.731C>T ENSP00000294304.6:p.Thr244Met
ENST00000529993.5:c.731C>T ENSP00000436652.1:p.Thr244Met
NM_001291902.1:c.-1035C>T NP_001278831.1:n.-1035C>T
NM_002335.3:c.731C>T NP_002326.2:p.Thr244Met
XM_005273994.2:c.731C>T XP_005274051.1:p.Thr244Met
XM_011545029.1:c.758C>T XP_011543331.1:p.Thr253Met
XM_011545030.1:c.758C>T XP_011543332.1:p.Thr253Met
XM_011545031.1:c.758C>T XP_011543333.1:p.Thr253Met
XR_949925.1:n.773C>T
XR_949926.1:n.773C>T
XR_001747874.1:n.773C>T
XR_949925.2:n.773C>T
XR_949926.2:n.773C>T
NM_002335.4:c.731C>T MANE Select NP_002326.2:p.Thr244Met
NM_001291902.2:c.-1035C>T NP_001278831.1:n.-1035C>T
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