Canonical Allele Identifier: CA5336703

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136431002C>T , CM000671.2:g.136431002C>T	GRCh38
NC_000009.11:g.139325454C>T , CM000671.1:g.139325454C>T	GRCh37
NC_000009.10:g.138445275C>T	NCBI36
NG_016126.1:g.13803G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1665G>A MANE Select	NP_063945.2:p.Thr555=
ENST00000371712.4:c.1665G>A MANE Select	ENSP00000360777.3:p.Thr555=
NM_001318502.1:c.1662G>A	NP_001305431.1:p.Thr554=
NM_001318502.2:c.1662G>A	NP_001305431.1:p.Thr554=
NM_019892.4:c.1665G>A	NP_063945.2:p.Thr555=
NM_019892.5:c.1665G>A	NP_063945.2:p.Thr555=
ENST00000371712.3:c.1665G>A	ENSP00000360777.3:p.Thr555=
ENST00000674693.1:n.182G>A
ENST00000676019.1:c.1563G>A	ENSP00000501984.1:p.Thr521=
XM_005266094.2:c.1662G>A	XP_005266151.1:p.Thr554=
XM_017014926.1:c.1665G>A	XP_016870415.1:p.Thr555=
XR_929828.2:n.2270G>A