Canonical Allele Identifier: CA259597

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 399
• ClinVar RCV Id: RCV000022404 ; RCV000201569 ; RCV001073387 ; RCV003144102 ; RCV003488316
• dbSNP Id: rs121918129
• ExAC: 9:139327014 C / T
• gnomAD v2: 9-139327014-C-T
• gnomAD v4: 9-136432562-C-T
• MyVariant Identifiers: chr9:g.139327014C>T (hg19) ; chr9:g.136432562C>T (hg38)
• PubMed: PMID:19668216 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136432562C>T , CM000671.2:g.136432562C>T	GRCh38
NC_000009.11:g.139327014C>T , CM000671.1:g.139327014C>T	GRCh37
NC_000009.10:g.138446835C>T	NCBI36
NG_016126.1:g.12243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.1304G>A MANE Select	ENSP00000360777.3:p.Arg435Gln
ENST00000676019.1:c.1202G>A	ENSP00000501984.1:p.Arg401Gln
ENST00000371712.3:c.1304G>A	ENSP00000360777.3:p.Arg435Gln
NM_019892.4:c.1304G>A	NP_063945.2:p.Arg435Gln
XM_005266094.2:c.1301G>A	XP_005266151.1:p.Arg434Gln
XR_929828.1:n.1744G>A
NM_001318502.1:c.1301G>A	NP_001305431.1:p.Arg434Gln
NM_019892.5:c.1304G>A	NP_063945.2:p.Arg435Gln
XM_017014926.1:c.1304G>A	XP_016870415.1:p.Arg435Gln
XR_929828.2:n.1746G>A
NM_019892.6:c.1304G>A MANE Select	NP_063945.2:p.Arg435Gln
NM_001318502.2:c.1301G>A	NP_001305431.1:p.Arg434Gln