Canonical Allele Identifier: CA5337119

Gene: INPP5E

Linked Data

• ClinVar Variation Id: 461748
• ClinVar RCV Id: RCV000839869 ; RCV001088844 ; RCV003151089 ; RCV001335948 ; RCV004541674 ; RCV002527750
• dbSNP Id: rs143107549
• ExAC: 9:139333249 G / A
• gnomAD v2: 9-139333249-G-A
• gnomAD v3: 9-136438797-G-A
• gnomAD v4: 9-136438797-G-A
• MyVariant Identifiers: chr9:g.139333249G>A (hg19) ; chr9:g.136438797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136438797G>A , CM000671.2:g.136438797G>A	GRCh38
NC_000009.11:g.139333249G>A , CM000671.1:g.139333249G>A	GRCh37
NC_000009.10:g.138453070G>A	NCBI36
NG_016126.1:g.6008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371712.4:c.623C>T MANE Select	ENSP00000360777.3:p.Thr208Ile
ENST00000635815.1:n.1027C>T
ENST00000676019.1:c.623C>T	ENSP00000501984.1:p.Thr208Ile
ENST00000371712.3:c.623C>T	ENSP00000360777.3:p.Thr208Ile
NM_019892.4:c.623C>T	NP_063945.2:p.Thr208Ile
XM_005266094.2:c.623C>T	XP_005266151.1:p.Thr208Ile
XR_929828.1:n.1063C>T
NM_001318502.1:c.623C>T	NP_001305431.1:p.Thr208Ile
NM_019892.5:c.623C>T	NP_063945.2:p.Thr208Ile
XM_017014926.1:c.623C>T	XP_016870415.1:p.Thr208Ile
XR_929828.2:n.1065C>T
NM_019892.6:c.623C>T MANE Select	NP_063945.2:p.Thr208Ile
NM_001318502.2:c.623C>T	NP_001305431.1:p.Thr208Ile