Canonical Allele Identifier: CA201637048

Gene: INPP5E

Linked Data

• dbSNP Id: rs567247143
• gnomAD v2: 9-139323216-G-A
• gnomAD v3: 9-136428764-G-A
• gnomAD v4: 9-136428764-G-A
• MyVariant Identifiers: chr9:g.139323216G>A (hg19) ; chr9:g.136428764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428764G>A , CM000671.2:g.136428764G>A	GRCh38
NC_000009.11:g.139323216G>A , CM000671.1:g.139323216G>A	GRCh37
NC_000009.10:g.138443037G>A	NCBI36
NG_016126.1:g.16041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.*911C>T MANE Select	ENSP00000360777.3:n.*911C>T
ENST00000676019.1:c.*911C>T	ENSP00000501984.1:n.*911C>T
ENST00000371712.3:c.*911C>T	ENSP00000360777.3:n.*911C>T
NM_019892.4:c.*911C>T	NP_063945.2:n.*911C>T
XM_005266094.2:c.*911C>T	XP_005266151.1:n.*911C>T
NM_001318502.1:c.*911C>T	NP_001305431.1:n.*911C>T
NM_019892.5:c.*911C>T	NP_063945.2:n.*911C>T
XM_017014926.1:c.*990C>T	XP_016870415.1:n.*990C>T
NM_019892.6:c.*911C>T MANE Select	NP_063945.2:n.*911C>T
NM_001318502.2:c.*911C>T	NP_001305431.1:n.*911C>T