Canonical Allele Identifier: CA114238

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 396
• ClinVar RCV Id: RCV000000427
• dbSNP Id: rs121918127
• MyVariant Identifiers: chr9:g.139324183G>A (hg19) ; chr9:g.136429731G>A (hg38)
• PubMed: PMID:19668215

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136429731G>A , CM000671.2:g.136429731G>A	GRCh38
NC_000009.11:g.139324183G>A , CM000671.1:g.139324183G>A	GRCh37
NC_000009.10:g.138444004G>A	NCBI36
NG_016126.1:g.15074C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.1879C>T MANE Select	ENSP00000360777.3:p.Gln627Ter
ENST00000676019.1:c.1777C>T	ENSP00000501984.1:p.Gln593Ter
ENST00000371712.3:c.1879C>T	ENSP00000360777.3:p.Gln627Ter
NM_019892.4:c.1879C>T	NP_063945.2:p.Gln627Ter
XM_005266094.2:c.1876C>T	XP_005266151.1:p.Gln626Ter
NM_001318502.1:c.1876C>T	NP_001305431.1:p.Gln626Ter
NM_019892.5:c.1879C>T	NP_063945.2:p.Gln627Ter
XM_017014926.1:c.*23C>T	XP_016870415.1:n.*23C>T
XR_929828.2:n.2484C>T
NM_019892.6:c.1879C>T MANE Select	NP_063945.2:p.Gln627Ter
NM_001318502.2:c.1876C>T	NP_001305431.1:p.Gln626Ter