Canonical Allele Identifier: CA1130020329

Gene: INPP5E

Linked Data

• dbSNP Id: rs1835628420
• gnomAD v3: 9-136428652-T-C
• gnomAD v4: 9-136428652-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428652T>C , CM000671.2:g.136428652T>C	GRCh38
NC_000009.11:g.139323104T>C , CM000671.1:g.139323104T>C	GRCh37
NC_000009.10:g.138442925T>C	NCBI36
NG_016126.1:g.16153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.*1023A>G MANE Select	ENSP00000360777.3:n.*1023A>G
ENST00000676019.1:c.*1023A>G	ENSP00000501984.1:n.*1023A>G
ENST00000371712.3:c.*1023A>G	ENSP00000360777.3:n.*1023A>G
NM_019892.4:c.*1023A>G	NP_063945.2:n.*1023A>G
XM_005266094.2:c.*1023A>G	XP_005266151.1:n.*1023A>G
NM_001318502.1:c.*1023A>G	NP_001305431.1:n.*1023A>G
NM_019892.5:c.*1023A>G	NP_063945.2:n.*1023A>G
XM_017014926.1:c.*1102A>G	XP_016870415.1:n.*1102A>G
NM_019892.6:c.*1023A>G MANE Select	NP_063945.2:n.*1023A>G
NM_001318502.2:c.*1023A>G	NP_001305431.1:n.*1023A>G