Canonical Allele Identifier: CA5336769
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136431867C>T
GRCh37 chr9:g.139326319C>T
gnomAD v2:
9:139326319 C / T
gnomAD v3:
9:136431867 C / T
gnomAD v4:
chr9-136431867-C-T
Joint Max Group AF 0.00133225 (NFE)
Genomes Max Group AF 0.0016592 (NFE)
Exomes Max Group AF 0.00129789 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136431867C>T , CM000671.2:g.136431867C>T GRCh38
NC_000009.11:g.139326319C>T , CM000671.1:g.139326319C>T GRCh37
NC_000009.10:g.138446140C>T NCBI36
NG_016126.1:g.12938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1506G>A MANE Select ENSP00000360777.3:p.Pro502=
ENST00000676019.1:c.1404G>A ENSP00000501984.1:p.Pro468=
ENST00000371712.3:c.1506G>A ENSP00000360777.3:p.Pro502=
NM_019892.4:c.1506G>A NP_063945.2:p.Pro502=
XM_005266094.2:c.1503G>A XP_005266151.1:p.Pro501=
NM_001318502.1:c.1503G>A NP_001305431.1:p.Pro501=
NM_019892.5:c.1506G>A NP_063945.2:p.Pro502=
XM_017014926.1:c.1506G>A XP_016870415.1:p.Pro502=
XR_929828.2:n.2111G>A
NM_019892.6:c.1506G>A MANE Select NP_063945.2:p.Pro502=
NM_001318502.2:c.1503G>A NP_001305431.1:p.Pro501=
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