Canonical Allele Identifier: CA375561463

Gene: INPP5E

Linked Data

• gnomAD v4: 9-136430410-G-T
• MyVariant Identifiers: chr9:g.139324862G>T (hg19) ; chr9:g.136430410G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.1669C>A MANE Select	ENSP00000360777.3:p.Arg557Ser
ENST00000674693.1:n.186C>A
ENST00000676019.1:c.1567C>A	ENSP00000501984.1:p.Arg523Ser
ENST00000371712.3:c.1669C>A	ENSP00000360777.3:p.Arg557Ser
NM_019892.4:c.1669C>A	NP_063945.2:p.Arg557Ser
XM_005266094.2:c.1666C>A	XP_005266151.1:p.Arg556Ser
NM_001318502.1:c.1666C>A	NP_001305431.1:p.Arg556Ser
NM_019892.5:c.1669C>A	NP_063945.2:p.Arg557Ser
XM_017014926.1:c.1669C>A	XP_016870415.1:p.Arg557Ser
XR_929828.2:n.2274C>A
NM_019892.6:c.1669C>A MANE Select	NP_063945.2:p.Arg557Ser
NM_001318502.2:c.1666C>A	NP_001305431.1:p.Arg556Ser