Canonical Allele Identifier: CA201643939

Gene: INPP5E

Linked Data

• dbSNP Id: rs954079213
• gnomAD v2: 9-139328491-G-A
• gnomAD v4: 9-136434039-G-A
• MyVariant Identifiers: chr9:g.139328491G>A (hg19) ; chr9:g.136434039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136434039G>A , CM000671.2:g.136434039G>A	GRCh38
NC_000009.11:g.139328491G>A , CM000671.1:g.139328491G>A	GRCh37
NC_000009.10:g.138448312G>A	NCBI36
NG_016126.1:g.10766C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.1032C>T MANE Select	ENSP00000360777.3:p.Asp344=
ENST00000674513.1:n.303C>T
ENST00000675256.1:c.262C>T
ENST00000676019.1:c.1032C>T	ENSP00000501984.1:p.Asp344=
ENST00000371712.3:c.1032C>T	ENSP00000360777.3:p.Asp344=
NM_019892.4:c.1032C>T	NP_063945.2:p.Asp344=
XM_005266094.2:c.1032C>T	XP_005266151.1:p.Asp344=
XR_929828.1:n.1472C>T
NM_001318502.1:c.1032C>T	NP_001305431.1:p.Asp344=
NM_019892.5:c.1032C>T	NP_063945.2:p.Asp344=
XM_017014926.1:c.1032C>T	XP_016870415.1:p.Asp344=
XR_929828.2:n.1474C>T
NM_019892.6:c.1032C>T MANE Select	NP_063945.2:p.Asp344=
NM_001318502.2:c.1032C>T	NP_001305431.1:p.Asp344=