Canonical Allele Identifier: CA209401
Gene: INPP5E HGNC NCBI
COSMIC:
COSM753174
MyVariant.info:
GRCh38 chr9:g.136434801C>T
GRCh37 chr9:g.139329253C>T
Revel Score:
ENST00000371712 (MANE Select) 0.605
gnomAD v2:
9:139329253 C / T
gnomAD v3:
9:136434801 C / T
gnomAD v4:
chr9-136434801-C-T
Joint Max Group AF 0.00028153 (NFE)
Genomes Max Group AF 0.00031677 (NFE)
Exomes Max Group AF 0.00027273 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136434801C>T , CM000671.2:g.136434801C>T GRCh38
NC_000009.11:g.139329253C>T , CM000671.1:g.139329253C>T GRCh37
NC_000009.10:g.138449074C>T NCBI36
NG_016126.1:g.10004G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.875G>A MANE Select ENSP00000360777.3:p.Arg292His
ENST00000674513.1:n.146G>A
ENST00000675256.1:c.63G>A
ENST00000676019.1:c.875G>A ENSP00000501984.1:p.Arg292His
ENST00000371712.3:c.875G>A ENSP00000360777.3:p.Arg292His
NM_019892.4:c.875G>A NP_063945.2:p.Arg292His
XM_005266094.2:c.875G>A XP_005266151.1:p.Arg292His
XR_929828.1:n.1315G>A
NM_001318502.1:c.875G>A NP_001305431.1:p.Arg292His
NM_019892.5:c.875G>A NP_063945.2:p.Arg292His
XM_017014926.1:c.875G>A XP_016870415.1:p.Arg292His
XR_929828.2:n.1317G>A
NM_019892.6:c.875G>A MANE Select NP_063945.2:p.Arg292His
NM_001318502.2:c.875G>A NP_001305431.1:p.Arg292His
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