Canonical Allele Identifier: CA5336788

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136431917G>A , CM000671.2:g.136431917G>A	GRCh38
NC_000009.11:g.139326369G>A , CM000671.1:g.139326369G>A	GRCh37
NC_000009.10:g.138446190G>A	NCBI36
NG_016126.1:g.12888C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1456C>T MANE Select	NP_063945.2:p.Arg486Cys
ENST00000371712.4:c.1456C>T MANE Select	ENSP00000360777.3:p.Arg486Cys
NM_001318502.1:c.1453C>T	NP_001305431.1:p.Arg485Cys
NM_001318502.2:c.1453C>T	NP_001305431.1:p.Arg485Cys
NM_019892.4:c.1456C>T	NP_063945.2:p.Arg486Cys
NM_019892.5:c.1456C>T	NP_063945.2:p.Arg486Cys
ENST00000371712.3:c.1456C>T	ENSP00000360777.3:p.Arg486Cys
ENST00000676019.1:c.1354C>T	ENSP00000501984.1:p.Arg452Cys
XM_005266094.2:c.1453C>T	XP_005266151.1:p.Arg485Cys
XM_017014926.1:c.1456C>T	XP_016870415.1:p.Arg486Cys
XR_929828.1:n.2059C>T
XR_929828.2:n.2061C>T