Canonical Allele Identifier: CA210911
Gene: LRP5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68448873G>A
GRCh37 chr11:g.68216341G>A
Revel Score:
ENST00000294304 (MANE Select) 0.782
gnomAD v2:
11:68216341 G / A
gnomAD v3:
11:68448873 G / A
gnomAD v4:
chr11-68448873-G-A
Joint Max Group AF 0.00001376 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
ClinVar RCV:
RCV000149788
RCV000584765
ClinVar Variation:
162393
dbSNP:
724159827
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68448873G>A , CM000673.2:g.68448873G>A GRCh38
NC_000011.9:g.68216341G>A , CM000673.1:g.68216341G>A GRCh37
NC_000011.8:g.67972917G>A NCBI36
NG_015835.1:g.141234G>A
NG_015835.2:g.141234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.4651G>A MANE Select ENSP00000294304.6:p.Asp1551Asn
ENST00000294304.11:c.4651G>A ENSP00000294304.6:p.Asp1551Asn
ENST00000529481.1:n.242G>A
ENST00000529702.1:c.321G>A
ENST00000529993.5:c.*3257G>A ENSP00000436652.1:n.*3257G>A
NM_001291902.1:c.2908G>A NP_001278831.1:p.Asp970Asn
NM_002335.3:c.4651G>A NP_002326.2:p.Asp1551Asn
XM_005273994.2:c.4765G>A XP_005274051.1:p.Asp1589Asn
XM_011545029.1:c.4792G>A XP_011543331.1:p.Asp1598Asn
XM_011545030.1:c.4678G>A XP_011543332.1:p.Asp1560Asn
XM_011545031.1:c.*5G>A XP_011543333.1:n.*5G>A
XR_949925.1:n.5038G>A
XR_949926.1:n.5054G>A
XM_017017735.1:c.3022G>A XP_016873224.1:p.Asp1008Asn
XM_017017736.1:c.2305G>A XP_016873225.1:p.Asp769Asn
XR_949925.2:n.5038G>A
XR_949926.2:n.5054G>A
NM_002335.4:c.4651G>A MANE Select NP_002326.2:p.Asp1551Asn
NM_001291902.2:c.2908G>A NP_001278831.1:p.Asp970Asn
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