Canonical Allele Identifier: CA5337213

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 365894
• ClinVar RCV Id: RCV000282860 ; RCV001095346 ; RCV001707685 ; RCV004544714
• dbSNP Id: rs571588033
• ExAC: 9:139333851 A / G
• gnomAD v2: 9-139333851-A-G
• gnomAD v3: 9-136439399-A-G
• gnomAD v4: 9-136439399-A-G
• MyVariant Identifiers: chr9:g.139333851A>G (hg19) ; chr9:g.136439399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136439399A>G , CM000671.2:g.136439399A>G	GRCh38
NC_000009.11:g.139333851A>G , CM000671.1:g.139333851A>G	GRCh37
NC_000009.10:g.138453672A>G	NCBI36
NG_016126.1:g.5406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.21T>C MANE Select	ENSP00000360777.3:p.Asn7=
ENST00000635815.1:n.425T>C
ENST00000676019.1:c.21T>C	ENSP00000501984.1:p.Asn7=
ENST00000371712.3:c.21T>C	ENSP00000360777.3:p.Asn7=
NM_019892.4:c.21T>C	NP_063945.2:p.Asn7=
XM_005266094.2:c.21T>C	XP_005266151.1:p.Asn7=
XR_929828.1:n.461T>C
NM_001318502.1:c.21T>C	NP_001305431.1:p.Asn7=
NM_019892.5:c.21T>C	NP_063945.2:p.Asn7=
XM_017014926.1:c.21T>C	XP_016870415.1:p.Asn7=
XR_929828.2:n.463T>C
NM_019892.6:c.21T>C MANE Select	NP_063945.2:p.Asn7=
NM_001318502.2:c.21T>C	NP_001305431.1:p.Asn7=