Canonical Allele Identifier: CA2499306169

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.[136430292C>G;136438674G>A] , CM000671.2:g.[136430292C>G;136438674G>A]	GRCh38
NC_000009.11:g.[139324744C>G;139333126G>A] , CM000671.1:g.[139324744C>G;139333126G>A]	GRCh37
NC_000009.10:g.[138444565C>G;138452947G>A]	NCBI36
NG_016126.1:g.[6131C>T;14513G>C]

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.[746C>T;1787G>C] MANE Select	NP_063945.2:p.[Ser249Phe;Arg596Thr]
ENST00000371712.4:c.[746C>T;1787G>C] MANE Select	ENSP00000360777.3:p.[Ser249Phe;Arg596Thr]
NM_001318502.1:c.[746C>T;1784G>C]	NP_001305431.1:p.[Ser249Phe;Arg595Thr]
NM_001318502.2:c.[746C>T;1784G>C]	NP_001305431.1:p.[Ser249Phe;Arg595Thr]
NM_019892.4:c.[746C>T;1787G>C]	NP_063945.2:p.[Ser249Phe;Arg596Thr]
NM_019892.5:c.[746C>T;1787G>C]	NP_063945.2:p.[Ser249Phe;Arg596Thr]
ENST00000371712.3:c.[746C>T;1787G>C]	ENSP00000360777.3:p.[Ser249Phe;Arg596Thr]
ENST00000676019.1:c.[746C>T;1685G>C]	ENSP00000501984.1:p.[Ser249Phe;Arg562Thr]
XM_005266094.2:c.[746C>T;1784G>C]	XP_005266151.1:p.[Ser249Phe;Arg595Thr]
XM_017014926.1:c.[746C>T;1787G>C]	XP_016870415.1:p.[Ser249Phe;Arg596Thr]
XR_929828.2:n.[1188C>T;2392G>C]