Canonical Allele Identifier: CA5336833
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136432486G>A
GRCh37 chr9:g.139326938G>A
gnomAD v2:
9:139326938 G / A
gnomAD v3:
9:136432486 G / A
gnomAD v4:
chr9-136432486-G-A
Joint Max Group AF 0.00006226 (NFE)
Genomes Max Group AF 0.00006804 (NFE)
Exomes Max Group AF 0.00005806 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136432486G>A , CM000671.2:g.136432486G>A GRCh38
NC_000009.11:g.139326938G>A , CM000671.1:g.139326938G>A GRCh37
NC_000009.10:g.138446759G>A NCBI36
NG_016126.1:g.12319C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1380C>T MANE Select ENSP00000360777.3:p.Ser460=
ENST00000676019.1:c.1278C>T ENSP00000501984.1:p.Ser426=
ENST00000371712.3:c.1380C>T ENSP00000360777.3:p.Ser460=
NM_019892.4:c.1380C>T NP_063945.2:p.Ser460=
XM_005266094.2:c.1377C>T XP_005266151.1:p.Ser459=
XR_929828.1:n.1820C>T
NM_001318502.1:c.1377C>T NP_001305431.1:p.Ser459=
NM_019892.5:c.1380C>T NP_063945.2:p.Ser460=
XM_017014926.1:c.1380C>T XP_016870415.1:p.Ser460=
XR_929828.2:n.1822C>T
NM_019892.6:c.1380C>T MANE Select NP_063945.2:p.Ser460=
NM_001318502.2:c.1377C>T NP_001305431.1:p.Ser459=
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