Canonical Allele Identifier: CA272459

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 159719
• ClinVar RCV Id: RCV000147273
• dbSNP Id: rs587784325
• MyVariant Identifiers: chr5:g.67589015C>T (hg19) ; chr5:g.68293187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68293187C>T , CM000667.2:g.68293187C>T	GRCh38
NC_000005.9:g.67589015C>T , CM000667.1:g.67589015C>T	GRCh37
NC_000005.8:g.67624771C>T	NCBI36
NG_012849.2:g.82432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.206C>T	ENSP00000323512.8:p.Thr69Ile
ENST00000336483.10:c.296C>T	ENSP00000338554.5:p.Thr99Ile
ENST00000517643.2:c.1106C>T	ENSP00000513333.1:p.Thr369Ile
ENST00000517698.6:c.*76C>T	ENSP00000430424.1:n.*76C>T
ENST00000521657.6:c.1106C>T	ENSP00000429277.1:p.Thr369Ile
ENST00000522084.6:c.296C>T	ENSP00000429766.2:p.Thr99Ile
ENST00000697457.1:c.1031C>T	ENSP00000513315.1:p.Thr344Ile
ENST00000697458.1:c.1106C>T	ENSP00000513316.1:p.Thr369Ile
ENST00000697460.1:c.581C>T	ENSP00000513318.1:p.Thr194Ile
ENST00000697461.1:c.1106C>T	ENSP00000513319.1:p.Thr369Ile
ENST00000697462.1:c.296C>T	ENSP00000513320.1:p.Thr99Ile
ENST00000697463.1:n.747C>T
ENST00000697464.1:c.*72C>T	ENSP00000513322.1:n.*72C>T
ENST00000697465.1:c.143C>T	ENSP00000513323.1:p.Thr48Ile
ENST00000697466.1:c.113C>T	ENSP00000513324.1:p.Thr38Ile
ENST00000697467.1:c.17C>T	ENSP00000513325.1:p.Thr6Ile
ENST00000697468.1:c.89C>T	ENSP00000513326.1:p.Thr30Ile
ENST00000697556.1:c.1013C>T	ENSP00000513334.1:p.Thr338Ile
ENST00000697557.1:c.89C>T	ENSP00000513335.1:p.Thr30Ile
ENST00000521381.6:c.1106C>T MANE Select	ENSP00000428056.1:p.Thr369Ile
ENST00000320694.12:c.206C>T	ENSP00000323512.8:p.Thr69Ile
ENST00000336483.9:c.296C>T	ENSP00000338554.5:p.Thr99Ile
ENST00000517698.5:c.*76C>T	ENSP00000430424.1:n.*76C>T
ENST00000518292.1:n.353C>T
ENST00000518813.5:n.1649C>T
ENST00000519025.5:c.125C>T	ENSP00000429156.1:p.Thr42Ile
ENST00000520550.1:n.505C>T
ENST00000521381.5:c.1106C>T	ENSP00000428056.1:p.Thr369Ile
ENST00000521409.5:c.17C>T	ENSP00000431058.1:p.Thr6Ile
ENST00000521657.5:c.1106C>T	ENSP00000429277.1:p.Thr369Ile
ENST00000522084.5:c.296C>T	ENSP00000429766.1:p.Thr99Ile
ENST00000523807.5:c.296C>T	ENSP00000430126.1:p.Thr99Ile
ENST00000523872.1:c.17C>T	ENSP00000430098.1:p.Thr6Ile
NM_001242466.1:c.17C>T	NP_001229395.1:p.Thr6Ile
NM_181504.3:c.296C>T	NP_852556.2:p.Thr99Ile
NM_181523.2:c.1106C>T	NP_852664.1:p.Thr369Ile
NM_181524.1:c.206C>T	NP_852665.1:p.Thr69Ile
XM_005248542.2:c.1106C>T	XP_005248599.1:p.Thr369Ile
XM_011543493.1:c.779C>T	XP_011541795.1:p.Thr260Ile
XM_005248542.3:c.1106C>T	XP_005248599.1:p.Thr369Ile
XM_011543493.3:c.779C>T	XP_011541795.1:p.Thr260Ile
XM_017009585.2:c.1106C>T	XP_016865074.1:p.Thr369Ile
XM_017009586.1:c.833C>T	XP_016865075.1:p.Thr278Ile
NM_181523.3:c.1106C>T MANE Select	NP_852664.1:p.Thr369Ile
NM_001242466.2:c.17C>T	NP_001229395.1:p.Thr6Ile
NM_181504.4:c.296C>T	NP_852556.2:p.Thr99Ile
NM_181524.2:c.206C>T	NP_852665.1:p.Thr69Ile