Canonical Allele Identifier: CA375561129

Gene: INPP5E

Linked Data

• gnomAD v4: 9-136430298-T-A
• MyVariant Identifiers: chr9:g.139324750T>A (hg19) ; chr9:g.136430298T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430298T>A , CM000671.2:g.136430298T>A	GRCh38
NC_000009.11:g.139324750T>A , CM000671.1:g.139324750T>A	GRCh37
NC_000009.10:g.138444571T>A	NCBI36
NG_016126.1:g.14507A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.1781A>T MANE Select	ENSP00000360777.3:p.Lys594Ile
ENST00000676019.1:c.1679A>T	ENSP00000501984.1:p.Lys560Ile
ENST00000371712.3:c.1781A>T	ENSP00000360777.3:p.Lys594Ile
NM_019892.4:c.1781A>T	NP_063945.2:p.Lys594Ile
XM_005266094.2:c.1778A>T	XP_005266151.1:p.Lys593Ile
NM_001318502.1:c.1778A>T	NP_001305431.1:p.Lys593Ile
NM_019892.5:c.1781A>T	NP_063945.2:p.Lys594Ile
XM_017014926.1:c.1781A>T	XP_016870415.1:p.Lys594Ile
XR_929828.2:n.2386A>T
NM_019892.6:c.1781A>T MANE Select	NP_063945.2:p.Lys594Ile
NM_001318502.2:c.1778A>T	NP_001305431.1:p.Lys593Ile