Canonical Allele Identifier: CA5336672
Gene: INPP5E HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136430336C>T
GRCh37 chr9:g.139324788C>T
gnomAD v2:
9:139324788 C / T
gnomAD v3:
9:136430336 C / T
gnomAD v4:
chr9-136430336-C-T
Joint Max Group AF 0.00187214 (SAS)
Genomes Max Group AF 0.00082511 (SAS)
Exomes Max Group AF 0.00189096 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136430336C>T , CM000671.2:g.136430336C>T GRCh38
NC_000009.11:g.139324788C>T , CM000671.1:g.139324788C>T GRCh37
NC_000009.10:g.138444609C>T NCBI36
NG_016126.1:g.14469G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1743G>A MANE Select ENSP00000360777.3:p.Thr581=
ENST00000674693.1:n.260G>A
ENST00000676019.1:c.1641G>A ENSP00000501984.1:p.Thr547=
ENST00000371712.3:c.1743G>A ENSP00000360777.3:p.Thr581=
NM_019892.4:c.1743G>A NP_063945.2:p.Thr581=
XM_005266094.2:c.1740G>A XP_005266151.1:p.Thr580=
NM_001318502.1:c.1740G>A NP_001305431.1:p.Thr580=
NM_019892.5:c.1743G>A NP_063945.2:p.Thr581=
XM_017014926.1:c.1743G>A XP_016870415.1:p.Thr581=
XR_929828.2:n.2348G>A
NM_019892.6:c.1743G>A MANE Select NP_063945.2:p.Thr581=
NM_001318502.2:c.1740G>A NP_001305431.1:p.Thr580=
Search 100 bp 5'
Search 100 bp 3'