Canonical Allele Identifier: CA5336724
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136431102C>G
GRCh37 chr9:g.139325554C>G
Revel Score:
ENST00000371712 (MANE Select) 0.891
gnomAD v2:
9:139325554 C / G
gnomAD v3:
9:136431102 C / G
gnomAD v4:
chr9-136431102-C-G
Joint Max Group AF 0.00010215 (AMR)
Exomes Max Group AF 0.0001207 (AMR)
ClinVar RCV:
RCV000636942
ClinVar Variation:
530891
dbSNP:
771866500
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136431102C>G , CM000671.2:g.136431102C>G GRCh38
NC_000009.11:g.139325554C>G , CM000671.1:g.139325554C>G GRCh37
NC_000009.10:g.138445375C>G NCBI36
NG_016126.1:g.13703G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1565G>C MANE Select ENSP00000360777.3:p.Gly522Ala
ENST00000674693.1:n.82G>C
ENST00000676019.1:c.1463G>C ENSP00000501984.1:p.Gly488Ala
ENST00000371712.3:c.1565G>C ENSP00000360777.3:p.Gly522Ala
NM_019892.4:c.1565G>C NP_063945.2:p.Gly522Ala
XM_005266094.2:c.1562G>C XP_005266151.1:p.Gly521Ala
NM_001318502.1:c.1562G>C NP_001305431.1:p.Gly521Ala
NM_019892.5:c.1565G>C NP_063945.2:p.Gly522Ala
XM_017014926.1:c.1565G>C XP_016870415.1:p.Gly522Ala
XR_929828.2:n.2170G>C
NM_019892.6:c.1565G>C MANE Select NP_063945.2:p.Gly522Ala
NM_001318502.2:c.1562G>C NP_001305431.1:p.Gly521Ala
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