Canonical Allele Identifier: CA375560232

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136429748C>T , CM000671.2:g.136429748C>T	GRCh38
NC_000009.11:g.139324200C>T , CM000671.1:g.139324200C>T	GRCh37
NC_000009.10:g.138444021C>T	NCBI36
NG_016126.1:g.15057G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1862G>A MANE Select	NP_063945.2:p.Arg621Gln
ENST00000371712.4:c.1862G>A MANE Select	ENSP00000360777.3:p.Arg621Gln
NM_001318502.1:c.1859G>A	NP_001305431.1:p.Arg620Gln
NM_001318502.2:c.1859G>A	NP_001305431.1:p.Arg620Gln
NM_019892.4:c.1862G>A	NP_063945.2:p.Arg621Gln
NM_019892.5:c.1862G>A	NP_063945.2:p.Arg621Gln
ENST00000371712.3:c.1862G>A	ENSP00000360777.3:p.Arg621Gln
ENST00000676019.1:c.1760G>A	ENSP00000501984.1:p.Arg587Gln
XM_005266094.2:c.1859G>A	XP_005266151.1:p.Arg620Gln
XM_017014926.1:c.*6G>A	XP_016870415.1:n.*6G>A
XR_929828.2:n.2467G>A