Canonical Allele Identifier: CA170735

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 156008
• ClinVar RCV Id: RCV000144065 ; RCV000349198 ; RCV001218386
• dbSNP Id: rs587777709
• COSMIC: COSM249900
• MyVariant Identifiers: chr5:g.67589663G>T (hg19) ; chr5:g.68293835G>T (hg38)
• PubMed: PMID:7705412 ; PMID:25488983 ; PMID:25939554

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68293835G>T , CM000667.2:g.68293835G>T	GRCh38
NC_000005.9:g.67589663G>T , CM000667.1:g.67589663G>T	GRCh37
NC_000005.8:g.67625419G>T	NCBI36
NG_012849.2:g.83080G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.525+1G>T	ENSP00000323512.8:n.525+1G>T
ENST00000336483.10:c.615+1G>T	ENSP00000338554.5:n.615+1G>T
ENST00000517643.2:c.1425+1G>T	ENSP00000513333.1:n.1425+1G>T
ENST00000517698.6:c.*395+1G>T	ENSP00000430424.1:n.*395+1G>T
ENST00000521657.6:c.1425+1G>T	ENSP00000429277.1:n.1425+1G>T
ENST00000522084.6:c.615+1G>T	ENSP00000429766.2:n.615+1G>T
ENST00000697457.1:c.1350+1G>T	ENSP00000513315.1:n.1350+1G>T
ENST00000697458.1:c.1425+1G>T	ENSP00000513316.1:n.1425+1G>T
ENST00000697460.1:c.900+1G>T	ENSP00000513318.1:n.900+1G>T
ENST00000697461.1:c.1425+1G>T	ENSP00000513319.1:n.1425+1G>T
ENST00000697462.1:c.615+1G>T	ENSP00000513320.1:n.615+1G>T
ENST00000697463.1:n.1066+1G>T
ENST00000697464.1:c.*391+1G>T	ENSP00000513322.1:n.*391+1G>T
ENST00000697465.1:c.462+1G>T	ENSP00000513323.1:n.462+1G>T
ENST00000697466.1:c.432+1G>T	ENSP00000513324.1:n.432+1G>T
ENST00000697467.1:c.336+1G>T	ENSP00000513325.1:n.336+1G>T
ENST00000697468.1:c.408+1G>T	ENSP00000513326.1:n.408+1G>T
ENST00000697469.1:c.117+1G>T	ENSP00000513327.1:n.117+1G>T
ENST00000697470.1:c.21+1G>T	ENSP00000513328.1:n.21+1G>T
ENST00000697557.1:c.408+1G>T	ENSP00000513335.1:n.408+1G>T
ENST00000521381.6:c.1425+1G>T MANE Select	ENSP00000428056.1:n.1425+1G>T
ENST00000320694.12:c.525+1G>T	ENSP00000323512.8:n.525+1G>T
ENST00000336483.9:c.615+1G>T	ENSP00000338554.5:n.615+1G>T
ENST00000517698.5:c.*395+1G>T	ENSP00000430424.1:n.*395+1G>T
ENST00000518813.5:n.1968+1G>T
ENST00000519025.5:c.444+1G>T	ENSP00000429156.1:n.444+1G>T
ENST00000520550.1:n.824+1G>T
ENST00000521381.5:c.1425+1G>T	ENSP00000428056.1:n.1425+1G>T
ENST00000521409.5:c.336+1G>T	ENSP00000431058.1:n.336+1G>T
ENST00000521657.5:c.1425+1G>T	ENSP00000429277.1:n.1425+1G>T
ENST00000523872.1:c.336+1G>T	ENSP00000430098.1:n.336+1G>T
NM_001242466.1:c.336+1G>T	NP_001229395.1:n.336+1G>T
NM_181504.3:c.615+1G>T	NP_852556.2:n.615+1G>T
NM_181523.2:c.1425+1G>T	NP_852664.1:n.1425+1G>T
NM_181524.1:c.525+1G>T	NP_852665.1:n.525+1G>T
XM_005248542.2:c.1425+1G>T	XP_005248599.1:n.1425+1G>T
XM_011543493.1:c.1098+1G>T	XP_011541795.1:n.1098+1G>T
XM_005248542.3:c.1425+1G>T	XP_005248599.1:n.1425+1G>T
XM_011543493.3:c.1098+1G>T	XP_011541795.1:n.1098+1G>T
XM_017009585.2:c.1425+1G>T	XP_016865074.1:n.1425+1G>T
XM_017009586.1:c.1152+1G>T	XP_016865075.1:n.1152+1G>T
NM_181523.3:c.1425+1G>T MANE Select	NP_852664.1:n.1425+1G>T
NM_001242466.2:c.336+1G>T	NP_001229395.1:n.336+1G>T
NM_181504.4:c.615+1G>T	NP_852556.2:n.615+1G>T
NM_181524.2:c.525+1G>T	NP_852665.1:n.525+1G>T