Canonical Allele Identifier: CA5336801
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136431966G>A
GRCh37 chr9:g.139326418G>A
gnomAD v2:
9:139326418 G / A
gnomAD v3:
9:136431966 G / A
gnomAD v4:
chr9-136431966-G-A
Joint Max Group AF 0.00000444 (AFR)
Genomes Max Group AF 0.00000802 (AFR)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000353915
RCV002058785
ClinVar Variation:
365881
dbSNP:
377483407
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136431966G>A , CM000671.2:g.136431966G>A GRCh38
NC_000009.11:g.139326418G>A , CM000671.1:g.139326418G>A GRCh37
NC_000009.10:g.138446239G>A NCBI36
NG_016126.1:g.12839C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1407C>T MANE Select ENSP00000360777.3:p.Phe469=
ENST00000676019.1:c.1305C>T ENSP00000501984.1:p.Phe435=
ENST00000371712.3:c.1407C>T ENSP00000360777.3:p.Phe469=
NM_019892.4:c.1407C>T NP_063945.2:p.Phe469=
XM_005266094.2:c.1404C>T XP_005266151.1:p.Phe468=
XR_929828.1:n.2010C>T
NM_001318502.1:c.1404C>T NP_001305431.1:p.Phe468=
NM_019892.5:c.1407C>T NP_063945.2:p.Phe469=
XM_017014926.1:c.1407C>T XP_016870415.1:p.Phe469=
XR_929828.2:n.2012C>T
NM_019892.6:c.1407C>T MANE Select NP_063945.2:p.Phe469=
NM_001318502.2:c.1404C>T NP_001305431.1:p.Phe468=
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