Canonical Allele Identifier: CA861056108

Gene: INPP5E

Linked Data

• dbSNP Id: rs1216040419
• gnomAD v4: 9-136430423-G-T
• MyVariant Identifiers: chr9:g.139324875G>T (hg19) ; chr9:g.136430423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430423G>T , CM000671.2:g.136430423G>T	GRCh38
NC_000009.11:g.139324875G>T , CM000671.1:g.139324875G>T	GRCh37
NC_000009.10:g.138444696G>T	NCBI36
NG_016126.1:g.14382C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.1666-10C>A MANE Select	ENSP00000360777.3:n.1666-10C>A
ENST00000674693.1:n.183-10C>A
ENST00000676019.1:c.1564-10C>A	ENSP00000501984.1:n.1564-10C>A
ENST00000371712.3:c.1666-10C>A	ENSP00000360777.3:n.1666-10C>A
NM_019892.4:c.1666-10C>A	NP_063945.2:n.1666-10C>A
XM_005266094.2:c.1663-10C>A	XP_005266151.1:n.1663-10C>A
NM_001318502.1:c.1663-10C>A	NP_001305431.1:n.1663-10C>A
NM_019892.5:c.1666-10C>A	NP_063945.2:n.1666-10C>A
XM_017014926.1:c.1666-10C>A	XP_016870415.1:n.1666-10C>A
XR_929828.2:n.2271-10C>A
NM_019892.6:c.1666-10C>A MANE Select	NP_063945.2:n.1666-10C>A
NM_001318502.2:c.1663-10C>A	NP_001305431.1:n.1663-10C>A