Canonical Allele Identifier: CA10626893

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 365886
• ClinVar RCV Id: RCV000343852 ; RCV002523761
• dbSNP Id: rs886063711
• gnomAD v4: 9-136432942-A-G
• MyVariant Identifiers: chr9:g.139327394A>G (hg19) ; chr9:g.136432942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136432942A>G , CM000671.2:g.136432942A>G	GRCh38
NC_000009.11:g.139327394A>G , CM000671.1:g.139327394A>G	GRCh37
NC_000009.10:g.138447215A>G	NCBI36
NG_016126.1:g.11863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.1279+14T>C MANE Select	ENSP00000360777.3:n.1279+14T>C
ENST00000676019.1:c.1177+14T>C	ENSP00000501984.1:n.1177+14T>C
ENST00000371712.3:c.1279+14T>C	ENSP00000360777.3:n.1279+14T>C
NM_019892.4:c.1279+14T>C	NP_063945.2:n.1279+14T>C
XM_005266094.2:c.1279+14T>C	XP_005266151.1:n.1279+14T>C
XR_929828.1:n.1719+14T>C
NM_001318502.1:c.1279+14T>C	NP_001305431.1:n.1279+14T>C
NM_019892.5:c.1279+14T>C	NP_063945.2:n.1279+14T>C
XM_017014926.1:c.1279+14T>C	XP_016870415.1:n.1279+14T>C
XR_929828.2:n.1721+14T>C
NM_019892.6:c.1279+14T>C MANE Select	NP_063945.2:n.1279+14T>C
NM_001318502.2:c.1279+14T>C	NP_001305431.1:n.1279+14T>C