Canonical Allele Identifier: CA5336780

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136431894C>T , CM000671.2:g.136431894C>T	GRCh38
NC_000009.11:g.139326346C>T , CM000671.1:g.139326346C>T	GRCh37
NC_000009.10:g.138446167C>T	NCBI36
NG_016126.1:g.12911G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1479G>A MANE Select	NP_063945.2:p.Leu493=
ENST00000371712.4:c.1479G>A MANE Select	ENSP00000360777.3:p.Leu493=
NM_001318502.1:c.1476G>A	NP_001305431.1:p.Leu492=
NM_001318502.2:c.1476G>A	NP_001305431.1:p.Leu492=
NM_019892.4:c.1479G>A	NP_063945.2:p.Leu493=
NM_019892.5:c.1479G>A	NP_063945.2:p.Leu493=
ENST00000371712.3:c.1479G>A	ENSP00000360777.3:p.Leu493=
ENST00000676019.1:c.1377G>A	ENSP00000501984.1:p.Leu459=
XM_005266094.2:c.1476G>A	XP_005266151.1:p.Leu492=
XM_017014926.1:c.1479G>A	XP_016870415.1:p.Leu493=
XR_929828.2:n.2084G>A