Canonical Allele Identifier: CA118089
Gene: LRP5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68389949G>A
GRCh37 chr11:g.68157417G>A
Revel Score:
ENST00000294304 (MANE Select) 0.938
gnomAD v4:
chr11-68389949-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68389949G>A , CM000673.2:g.68389949G>A GRCh38
NC_000011.9:g.68157417G>A , CM000673.1:g.68157417G>A GRCh37
NC_000011.8:g.67913993G>A NCBI36
NG_015835.1:g.82310G>A
NG_015835.2:g.82310G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1481G>A MANE Select ENSP00000294304.6:p.Arg494Gln
ENST00000294304.11:c.1481G>A ENSP00000294304.6:p.Arg494Gln
ENST00000529993.5:c.1412+3237G>A ENSP00000436652.1:n.1412+3237G>A
NM_001291902.1:c.-354+3237G>A NP_001278831.1:n.-354+3237G>A
NM_002335.3:c.1481G>A NP_002326.2:p.Arg494Gln
XM_005273994.2:c.1481G>A XP_005274051.1:p.Arg494Gln
XM_011545029.1:c.1508G>A XP_011543331.1:p.Arg503Gln
XM_011545030.1:c.1508G>A XP_011543332.1:p.Arg503Gln
XM_011545031.1:c.1508G>A XP_011543333.1:p.Arg503Gln
XR_949925.1:n.1523G>A
XR_949926.1:n.1523G>A
XR_001747874.1:n.1523G>A
XR_949925.2:n.1523G>A
XR_949926.2:n.1523G>A
NM_002335.4:c.1481G>A MANE Select NP_002326.2:p.Arg494Gln
NM_001291902.2:c.-354+3237G>A NP_001278831.1:n.-354+3237G>A
Search 100 bp 5'
Search 100 bp 3'