Canonical Allele Identifier: CA375561876

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136431103C>G , CM000671.2:g.136431103C>G	GRCh38
NC_000009.11:g.139325555C>G , CM000671.1:g.139325555C>G	GRCh37
NC_000009.10:g.138445376C>G	NCBI36
NG_016126.1:g.13702G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1564G>C MANE Select	NP_063945.2:p.Gly522Arg
ENST00000371712.4:c.1564G>C MANE Select	ENSP00000360777.3:p.Gly522Arg
NM_001318502.1:c.1561G>C	NP_001305431.1:p.Gly521Arg
NM_001318502.2:c.1561G>C	NP_001305431.1:p.Gly521Arg
NM_019892.4:c.1564G>C	NP_063945.2:p.Gly522Arg
NM_019892.5:c.1564G>C	NP_063945.2:p.Gly522Arg
ENST00000371712.3:c.1564G>C	ENSP00000360777.3:p.Gly522Arg
ENST00000674693.1:n.81G>C
ENST00000676019.1:c.1462G>C	ENSP00000501984.1:p.Gly488Arg
XM_005266094.2:c.1561G>C	XP_005266151.1:p.Gly521Arg
XM_017014926.1:c.1564G>C	XP_016870415.1:p.Gly522Arg
XR_929828.2:n.2169G>C