Canonical Allele Identifier: CA5336794

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136431931C>T , CM000671.2:g.136431931C>T	GRCh38
NC_000009.11:g.139326383C>T , CM000671.1:g.139326383C>T	GRCh37
NC_000009.10:g.138446204C>T	NCBI36
NG_016126.1:g.12874G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1442G>A MANE Select	NP_063945.2:p.Arg481His
ENST00000371712.4:c.1442G>A MANE Select	ENSP00000360777.3:p.Arg481His
NM_001318502.1:c.1439G>A	NP_001305431.1:p.Arg480His
NM_001318502.2:c.1439G>A	NP_001305431.1:p.Arg480His
NM_019892.4:c.1442G>A	NP_063945.2:p.Arg481His
NM_019892.5:c.1442G>A	NP_063945.2:p.Arg481His
ENST00000371712.3:c.1442G>A	ENSP00000360777.3:p.Arg481His
ENST00000676019.1:c.1340G>A	ENSP00000501984.1:p.Arg447His
XM_005266094.2:c.1439G>A	XP_005266151.1:p.Arg480His
XM_017014926.1:c.1442G>A	XP_016870415.1:p.Arg481His
XR_929828.1:n.2045G>A
XR_929828.2:n.2047G>A