Canonical Allele Identifier: CA3290463

Gene: PIK3R1

Linked Data

• dbSNP Id: rs767013611
• ExAC: 5:67591134 C / T
• gnomAD v2: 5-67591134-C-T
• gnomAD v4: 5-68295306-C-T
• COSMIC: COSM1262202 ; COSM1262203 ; COSM1262204
• MyVariant Identifiers: chr5:g.67591134C>T (hg19) ; chr5:g.68295306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295306C>T , CM000667.2:g.68295306C>T	GRCh38
NC_000005.9:g.67591134C>T , CM000667.1:g.67591134C>T	GRCh37
NC_000005.8:g.67626890C>T	NCBI36
NG_012849.2:g.84551C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320694.13:c.827C>T	ENSP00000323512.8:p.Thr276Met
ENST00000336483.10:c.917C>T	ENSP00000338554.5:p.Thr306Met
ENST00000517643.2:c.1727C>T	ENSP00000513333.1:p.Thr576Met
ENST00000517698.6:c.*697C>T	ENSP00000430424.1:n.*697C>T
ENST00000521657.6:c.1727C>T	ENSP00000429277.1:p.Thr576Met
ENST00000522084.6:c.917C>T	ENSP00000429766.2:p.Thr306Met
ENST00000697457.1:c.1652C>T	ENSP00000513315.1:p.Thr551Met
ENST00000697458.1:c.1727C>T	ENSP00000513316.1:p.Thr576Met
ENST00000697460.1:c.1202C>T	ENSP00000513318.1:p.Thr401Met
ENST00000697461.1:c.1727C>T	ENSP00000513319.1:p.Thr576Met
ENST00000697462.1:c.917C>T	ENSP00000513320.1:p.Thr306Met
ENST00000697463.1:n.1368C>T
ENST00000697464.1:c.*693C>T	ENSP00000513322.1:n.*693C>T
ENST00000697465.1:c.764C>T	ENSP00000513323.1:p.Thr255Met
ENST00000697466.1:c.734C>T	ENSP00000513324.1:p.Thr245Met
ENST00000697467.1:c.638C>T	ENSP00000513325.1:p.Thr213Met
ENST00000697468.1:c.710C>T	ENSP00000513326.1:p.Thr237Met
ENST00000697469.1:c.419C>T	ENSP00000513327.1:p.Thr140Met
ENST00000697470.1:c.323C>T	ENSP00000513328.1:p.Thr108Met
ENST00000697557.1:c.710C>T	ENSP00000513335.1:p.Thr237Met
ENST00000521381.6:c.1727C>T MANE Select	ENSP00000428056.1:p.Thr576Met
ENST00000320694.12:c.827C>T	ENSP00000323512.8:p.Thr276Met
ENST00000336483.9:c.917C>T	ENSP00000338554.5:p.Thr306Met
ENST00000517698.5:c.*697C>T	ENSP00000430424.1:n.*697C>T
ENST00000518813.5:n.2270C>T
ENST00000520550.1:n.1126C>T
ENST00000521381.5:c.1727C>T	ENSP00000428056.1:p.Thr576Met
ENST00000521657.5:c.1727C>T	ENSP00000429277.1:p.Thr576Met
ENST00000523872.1:c.638C>T	ENSP00000430098.1:p.Thr213Met
NM_001242466.1:c.638C>T	NP_001229395.1:p.Thr213Met
NM_181504.3:c.917C>T	NP_852556.2:p.Thr306Met
NM_181523.2:c.1727C>T	NP_852664.1:p.Thr576Met
NM_181524.1:c.827C>T	NP_852665.1:p.Thr276Met
XM_005248542.2:c.1727C>T	XP_005248599.1:p.Thr576Met
XM_011543493.1:c.1400C>T	XP_011541795.1:p.Thr467Met
XM_005248542.3:c.1727C>T	XP_005248599.1:p.Thr576Met
XM_011543493.3:c.1400C>T	XP_011541795.1:p.Thr467Met
XM_017009585.2:c.1727C>T	XP_016865074.1:p.Thr576Met
XM_017009586.1:c.1454C>T	XP_016865075.1:p.Thr485Met
NM_181523.3:c.1727C>T MANE Select	NP_852664.1:p.Thr576Met
NM_001242466.2:c.638C>T	NP_001229395.1:p.Thr213Met
NM_181504.4:c.917C>T	NP_852556.2:p.Thr306Met
NM_181524.2:c.827C>T	NP_852665.1:p.Thr276Met