Canonical Allele Identifier: CA5336941
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136433178C>T
GRCh37 chr9:g.139327630C>T
Revel Score:
ENST00000371712 (MANE Select) 0.480
gnomAD v2:
9:139327630 C / T
gnomAD v3:
9:136433178 C / T
gnomAD v4:
chr9-136433178-C-T
Joint Max Group AF 0.00000878 (NFE)
Exomes Max Group AF 0.00000931 (NFE)
ClinVar RCV:
RCV000303395
RCV001408981
ClinVar Variation:
365888
dbSNP:
200518324
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136433178C>T , CM000671.2:g.136433178C>T GRCh38
NC_000009.11:g.139327630C>T , CM000671.1:g.139327630C>T GRCh37
NC_000009.10:g.138447451C>T NCBI36
NG_016126.1:g.11627G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1136G>A MANE Select ENSP00000360777.3:p.Arg379Lys
ENST00000676019.1:c.1035-1G>A ENSP00000501984.1:n.1035-1G>A
ENST00000371712.3:c.1136G>A ENSP00000360777.3:p.Arg379Lys
NM_019892.4:c.1136G>A NP_063945.2:p.Arg379Lys
XM_005266094.2:c.1136G>A XP_005266151.1:p.Arg379Lys
XR_929828.1:n.1576G>A
NM_001318502.1:c.1136G>A NP_001305431.1:p.Arg379Lys
NM_019892.5:c.1136G>A NP_063945.2:p.Arg379Lys
XM_017014926.1:c.1136G>A XP_016870415.1:p.Arg379Lys
XR_929828.2:n.1578G>A
NM_019892.6:c.1136G>A MANE Select NP_063945.2:p.Arg379Lys
NM_001318502.2:c.1136G>A NP_001305431.1:p.Arg379Lys
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