Canonical Allele Identifier: CA10629599

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 365875
• ClinVar RCV Id: RCV000390164 ; RCV001692069
• dbSNP Id: rs35763810
• gnomAD v2: 9-139323799-A-G
• gnomAD v3: 9-136429347-A-G
• gnomAD v4: 9-136429347-A-G
• MyVariant Identifiers: chr9:g.139323799A>G (hg19) ; chr9:g.136429347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136429347A>G , CM000671.2:g.136429347A>G	GRCh38
NC_000009.11:g.139323799A>G , CM000671.1:g.139323799A>G	GRCh37
NC_000009.10:g.138443620A>G	NCBI36
NG_016126.1:g.15458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.*328T>C MANE Select	ENSP00000360777.3:n.*328T>C
ENST00000676019.1:c.*328T>C	ENSP00000501984.1:n.*328T>C
ENST00000371712.3:c.*328T>C	ENSP00000360777.3:n.*328T>C
NM_019892.4:c.*328T>C	NP_063945.2:n.*328T>C
XM_005266094.2:c.*328T>C	XP_005266151.1:n.*328T>C
NM_001318502.1:c.*328T>C	NP_001305431.1:n.*328T>C
NM_019892.5:c.*328T>C	NP_063945.2:n.*328T>C
XM_017014926.1:c.*407T>C	XP_016870415.1:n.*407T>C
NM_019892.6:c.*328T>C MANE Select	NP_063945.2:n.*328T>C
NM_001318502.2:c.*328T>C	NP_001305431.1:n.*328T>C