Canonical Allele Identifier: CA143682

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 48646
• ClinVar RCV Id: RCV000041966 ; RCV001388977
• dbSNP Id: rs397509384
• MyVariant Identifiers: chr5:g.67576811G>A (hg19) ; chr5:g.68280983G>A (hg38)
• PubMed: PMID:22351933 ; PMID:25133428

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68280983G>A , CM000667.2:g.68280983G>A	GRCh38
NC_000005.9:g.67576811G>A , CM000667.1:g.67576811G>A	GRCh37
NC_000005.8:g.67612567G>A	NCBI36
NG_012849.2:g.70228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517643.2:c.893G>A	ENSP00000513333.1:p.Trp298Ter
ENST00000521657.6:c.893G>A	ENSP00000429277.1:p.Trp298Ter
ENST00000522084.6:c.83G>A	ENSP00000429766.2:p.Trp28Ter
ENST00000697457.1:c.818G>A	ENSP00000513315.1:p.Trp273Ter
ENST00000697458.1:c.893G>A	ENSP00000513316.1:p.Trp298Ter
ENST00000697460.1:c.368G>A	ENSP00000513318.1:p.Trp123Ter
ENST00000697461.1:c.893G>A	ENSP00000513319.1:p.Trp298Ter
ENST00000697556.1:c.800G>A	ENSP00000513334.1:p.Trp267Ter
ENST00000521381.6:c.893G>A MANE Select	ENSP00000428056.1:p.Trp298Ter
ENST00000521381.5:c.893G>A	ENSP00000428056.1:p.Trp298Ter
ENST00000521657.5:c.893G>A	ENSP00000429277.1:p.Trp298Ter
ENST00000522084.5:c.83G>A	ENSP00000429766.1:p.Trp28Ter
ENST00000523807.5:c.83G>A	ENSP00000430126.1:p.Trp28Ter
NM_181523.2:c.893G>A	NP_852664.1:p.Trp298Ter
XM_005248542.2:c.893G>A	XP_005248599.1:p.Trp298Ter
XM_011543493.1:c.566G>A	XP_011541795.1:p.Trp189Ter
XM_005248542.3:c.893G>A	XP_005248599.1:p.Trp298Ter
XM_011543493.3:c.566G>A	XP_011541795.1:p.Trp189Ter
XM_017009585.2:c.893G>A	XP_016865074.1:p.Trp298Ter
XM_017009586.1:c.620G>A	XP_016865075.1:p.Trp207Ter
NM_181523.3:c.893G>A MANE Select	NP_852664.1:p.Trp298Ter