Canonical Allele Identifier: CA5336842

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136432541G>A , CM000671.2:g.136432541G>A	GRCh38
NC_000009.11:g.139326993G>A , CM000671.1:g.139326993G>A	GRCh37
NC_000009.10:g.138446814G>A	NCBI36
NG_016126.1:g.12264C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1325C>T MANE Select	NP_063945.2:p.Thr442Ile
ENST00000371712.4:c.1325C>T MANE Select	ENSP00000360777.3:p.Thr442Ile
NM_001318502.1:c.1322C>T	NP_001305431.1:p.Thr441Ile
NM_001318502.2:c.1322C>T	NP_001305431.1:p.Thr441Ile
NM_019892.4:c.1325C>T	NP_063945.2:p.Thr442Ile
NM_019892.5:c.1325C>T	NP_063945.2:p.Thr442Ile
ENST00000371712.3:c.1325C>T	ENSP00000360777.3:p.Thr442Ile
ENST00000676019.1:c.1223C>T	ENSP00000501984.1:p.Thr408Ile
XM_005266094.2:c.1322C>T	XP_005266151.1:p.Thr441Ile
XM_017014926.1:c.1325C>T	XP_016870415.1:p.Thr442Ile
XR_929828.1:n.1765C>T
XR_929828.2:n.1767C>T