Canonical Allele Identifier: CA5337119
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136438797G>A
GRCh37 chr9:g.139333249G>A
Revel Score:
ENST00000371712 (MANE Select) 0.400
gnomAD v2:
9:139333249 G / A
gnomAD v3:
9:136438797 G / A
gnomAD v4:
chr9-136438797-G-A
Joint Max Group AF 0.00487399 (AFR)
Genomes Max Group AF 0.00505843 (AFR)
Exomes Max Group AF 0.00426115 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136438797G>A , CM000671.2:g.136438797G>A GRCh38
NC_000009.11:g.139333249G>A , CM000671.1:g.139333249G>A GRCh37
NC_000009.10:g.138453070G>A NCBI36
NG_016126.1:g.6008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.623C>T MANE Select ENSP00000360777.3:p.Thr208Ile
ENST00000635815.1:n.1027C>T
ENST00000676019.1:c.623C>T ENSP00000501984.1:p.Thr208Ile
ENST00000371712.3:c.623C>T ENSP00000360777.3:p.Thr208Ile
NM_019892.4:c.623C>T NP_063945.2:p.Thr208Ile
XM_005266094.2:c.623C>T XP_005266151.1:p.Thr208Ile
XR_929828.1:n.1063C>T
NM_001318502.1:c.623C>T NP_001305431.1:p.Thr208Ile
NM_019892.5:c.623C>T NP_063945.2:p.Thr208Ile
XM_017014926.1:c.623C>T XP_016870415.1:p.Thr208Ile
XR_929828.2:n.1065C>T
NM_019892.6:c.623C>T MANE Select NP_063945.2:p.Thr208Ile
NM_001318502.2:c.623C>T NP_001305431.1:p.Thr208Ile
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