Canonical Allele Identifier: CA5336668

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430292C>G , CM000671.2:g.136430292C>G	GRCh38
NC_000009.11:g.139324744C>G , CM000671.1:g.139324744C>G	GRCh37
NC_000009.10:g.138444565C>G	NCBI36
NG_016126.1:g.14513G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1787G>C MANE Select	NP_063945.2:p.Arg596Thr
ENST00000371712.4:c.1787G>C MANE Select	ENSP00000360777.3:p.Arg596Thr
NM_001318502.1:c.1784G>C	NP_001305431.1:p.Arg595Thr
NM_001318502.2:c.1784G>C	NP_001305431.1:p.Arg595Thr
NM_019892.4:c.1787G>C	NP_063945.2:p.Arg596Thr
NM_019892.5:c.1787G>C	NP_063945.2:p.Arg596Thr
ENST00000371712.3:c.1787G>C	ENSP00000360777.3:p.Arg596Thr
ENST00000676019.1:c.1685G>C	ENSP00000501984.1:p.Arg562Thr
XM_005266094.2:c.1784G>C	XP_005266151.1:p.Arg595Thr
XM_017014926.1:c.1787G>C	XP_016870415.1:p.Arg596Thr
XR_929828.2:n.2392G>C