Canonical Allele Identifier: CA201637044

Gene: INPP5E

Linked Data

• dbSNP Id: rs754686794
• gnomAD v2: 9-139323215-C-T
• gnomAD v3: 9-136428763-C-T
• gnomAD v4: 9-136428763-C-T
• MyVariant Identifiers: chr9:g.139323215C>T (hg19) ; chr9:g.136428763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428763C>T , CM000671.2:g.136428763C>T	GRCh38
NC_000009.11:g.139323215C>T , CM000671.1:g.139323215C>T	GRCh37
NC_000009.10:g.138443036C>T	NCBI36
NG_016126.1:g.16042G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.*912G>A MANE Select	ENSP00000360777.3:n.*912G>A
ENST00000676019.1:c.*912G>A	ENSP00000501984.1:n.*912G>A
ENST00000371712.3:c.*912G>A	ENSP00000360777.3:n.*912G>A
NM_019892.4:c.*912G>A	NP_063945.2:n.*912G>A
XM_005266094.2:c.*912G>A	XP_005266151.1:n.*912G>A
NM_001318502.1:c.*912G>A	NP_001305431.1:n.*912G>A
NM_019892.5:c.*912G>A	NP_063945.2:n.*912G>A
XM_017014926.1:c.*991G>A	XP_016870415.1:n.*991G>A
NM_019892.6:c.*912G>A MANE Select	NP_063945.2:n.*912G>A
NM_001318502.2:c.*912G>A	NP_001305431.1:n.*912G>A