Canonical Allele Identifier: CA5336847
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136432567C>T , CM000671.2:g.136432567C>T GRCh38
NC_000009.11:g.139327019C>T , CM000671.1:g.139327019C>T GRCh37
NC_000009.10:g.138446840C>T NCBI36
NG_016126.1:g.12238G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1299G>A MANE Select ENSP00000360777.3:p.Ala433=
ENST00000676019.1:c.1197G>A ENSP00000501984.1:p.Ala399=
ENST00000371712.3:c.1299G>A ENSP00000360777.3:p.Ala433=
NM_019892.4:c.1299G>A NP_063945.2:p.Ala433=
XM_005266094.2:c.1296G>A XP_005266151.1:p.Ala432=
XR_929828.1:n.1739G>A
NM_001318502.1:c.1296G>A NP_001305431.1:p.Ala432=
NM_019892.5:c.1299G>A NP_063945.2:p.Ala433=
XM_017014926.1:c.1299G>A XP_016870415.1:p.Ala433=
XR_929828.2:n.1741G>A
NM_019892.6:c.1299G>A MANE Select NP_063945.2:p.Ala433=
NM_001318502.2:c.1296G>A NP_001305431.1:p.Ala432=