Canonical Allele Identifier: CA2580597968

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428859T>A , CM000671.2:g.136428859T>A	GRCh38
NC_000009.11:g.139323311T>A , CM000671.1:g.139323311T>A	GRCh37
NC_000009.10:g.138443132T>A	NCBI36
NG_016126.1:g.15946A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.*816A>T MANE Select	ENSP00000360777.3:n.*816A>T
ENST00000676019.1:c.*816A>T	ENSP00000501984.1:n.*816A>T
ENST00000371712.3:c.*816A>T	ENSP00000360777.3:n.*816A>T
NM_019892.4:c.*816A>T	NP_063945.2:n.*816A>T
XM_005266094.2:c.*816A>T	XP_005266151.1:n.*816A>T
NM_001318502.1:c.*816A>T	NP_001305431.1:n.*816A>T
NM_019892.5:c.*816A>T	NP_063945.2:n.*816A>T
XM_017014926.1:c.*895A>T	XP_016870415.1:n.*895A>T
NM_019892.6:c.*816A>T MANE Select	NP_063945.2:n.*816A>T
NM_001318502.2:c.*816A>T	NP_001305431.1:n.*816A>T