Canonical Allele Identifier: CA5337062

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 365890
• ClinVar RCV Id: RCV000369602 ; RCV001095323 ; RCV001712166
• dbSNP Id: rs373176644
• ExAC: 9:139329323 G / A
• gnomAD v2: 9-139329323-G-A
• gnomAD v3: 9-136434871-G-A
• gnomAD v4: 9-136434871-G-A
• MyVariant Identifiers: chr9:g.139329323G>A (hg19) ; chr9:g.136434871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136434871G>A , CM000671.2:g.136434871G>A	GRCh38
NC_000009.11:g.139329323G>A , CM000671.1:g.139329323G>A	GRCh37
NC_000009.10:g.138449144G>A	NCBI36
NG_016126.1:g.9934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.813-8C>T MANE Select	ENSP00000360777.3:n.813-8C>T
ENST00000674513.1:n.84-8C>T
ENST00000676019.1:c.813-8C>T	ENSP00000501984.1:n.813-8C>T
ENST00000371712.3:c.813-8C>T	ENSP00000360777.3:n.813-8C>T
NM_019892.4:c.813-8C>T	NP_063945.2:n.813-8C>T
XM_005266094.2:c.813-8C>T	XP_005266151.1:n.813-8C>T
XR_929828.1:n.1253-8C>T
NM_001318502.1:c.813-8C>T	NP_001305431.1:n.813-8C>T
NM_019892.5:c.813-8C>T	NP_063945.2:n.813-8C>T
XM_017014926.1:c.813-8C>T	XP_016870415.1:n.813-8C>T
XR_929828.2:n.1255-8C>T
NM_019892.6:c.813-8C>T MANE Select	NP_063945.2:n.813-8C>T
NM_001318502.2:c.813-8C>T	NP_001305431.1:n.813-8C>T