Canonical Allele Identifier: CA375561462

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430410G>C , CM000671.2:g.136430410G>C	GRCh38
NC_000009.11:g.139324862G>C , CM000671.1:g.139324862G>C	GRCh37
NC_000009.10:g.138444683G>C	NCBI36
NG_016126.1:g.14395C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1669C>G MANE Select	NP_063945.2:p.Arg557Gly
ENST00000371712.4:c.1669C>G MANE Select	ENSP00000360777.3:p.Arg557Gly
NM_001318502.1:c.1666C>G	NP_001305431.1:p.Arg556Gly
NM_001318502.2:c.1666C>G	NP_001305431.1:p.Arg556Gly
NM_019892.4:c.1669C>G	NP_063945.2:p.Arg557Gly
NM_019892.5:c.1669C>G	NP_063945.2:p.Arg557Gly
ENST00000371712.3:c.1669C>G	ENSP00000360777.3:p.Arg557Gly
ENST00000674693.1:n.186C>G
ENST00000676019.1:c.1567C>G	ENSP00000501984.1:p.Arg523Gly
XM_005266094.2:c.1666C>G	XP_005266151.1:p.Arg556Gly
XM_017014926.1:c.1669C>G	XP_016870415.1:p.Arg557Gly
XR_929828.2:n.2274C>G