Canonical Allele Identifier: CA201636959

Gene: INPP5E

Linked Data

• dbSNP Id: rs950160674
• gnomAD v2: 9-139323124-T-C
• gnomAD v3: 9-136428672-T-C
• gnomAD v4: 9-136428672-T-C
• MyVariant Identifiers: chr9:g.139323124T>C (hg19) ; chr9:g.136428672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428672T>C , CM000671.2:g.136428672T>C	GRCh38
NC_000009.11:g.139323124T>C , CM000671.1:g.139323124T>C	GRCh37
NC_000009.10:g.138442945T>C	NCBI36
NG_016126.1:g.16133A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.*1003A>G MANE Select	ENSP00000360777.3:n.*1003A>G
ENST00000676019.1:c.*1003A>G	ENSP00000501984.1:n.*1003A>G
ENST00000371712.3:c.*1003A>G	ENSP00000360777.3:n.*1003A>G
NM_019892.4:c.*1003A>G	NP_063945.2:n.*1003A>G
XM_005266094.2:c.*1003A>G	XP_005266151.1:n.*1003A>G
NM_001318502.1:c.*1003A>G	NP_001305431.1:n.*1003A>G
NM_019892.5:c.*1003A>G	NP_063945.2:n.*1003A>G
XM_017014926.1:c.*1082A>G	XP_016870415.1:n.*1082A>G
NM_019892.6:c.*1003A>G MANE Select	NP_063945.2:n.*1003A>G
NM_001318502.2:c.*1003A>G	NP_001305431.1:n.*1003A>G