Canonical Allele Identifier: CA359883005

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295255T>C , CM000667.2:g.68295255T>C	GRCh38
NC_000005.9:g.67591083T>C , CM000667.1:g.67591083T>C	GRCh37
NC_000005.8:g.67626839T>C	NCBI36
NG_012849.2:g.84500T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_181523.3:c.1676T>C MANE Select	NP_852664.1:p.Ile559Thr
ENST00000521381.6:c.1676T>C MANE Select	ENSP00000428056.1:p.Ile559Thr
NM_001242466.1:c.587T>C	NP_001229395.1:p.Ile196Thr
NM_001242466.2:c.587T>C	NP_001229395.1:p.Ile196Thr
NM_181504.3:c.866T>C	NP_852556.2:p.Ile289Thr
NM_181504.4:c.866T>C	NP_852556.2:p.Ile289Thr
NM_181523.2:c.1676T>C	NP_852664.1:p.Ile559Thr
NM_181524.1:c.776T>C	NP_852665.1:p.Ile259Thr
NM_181524.2:c.776T>C	NP_852665.1:p.Ile259Thr
ENST00000320694.12:c.776T>C	ENSP00000323512.8:p.Ile259Thr
ENST00000320694.13:c.776T>C	ENSP00000323512.8:p.Ile259Thr
ENST00000336483.10:c.866T>C	ENSP00000338554.5:p.Ile289Thr
ENST00000336483.9:c.866T>C	ENSP00000338554.5:p.Ile289Thr
ENST00000517643.2:c.1676T>C	ENSP00000513333.1:p.Ile559Thr
ENST00000517698.5:c.*646T>C	ENSP00000430424.1:n.*646T>C
ENST00000517698.6:c.*646T>C	ENSP00000430424.1:n.*646T>C
ENST00000518813.5:n.2219T>C
ENST00000520550.1:n.1075T>C
ENST00000521381.5:c.1676T>C	ENSP00000428056.1:p.Ile559Thr
ENST00000521657.5:c.1676T>C	ENSP00000429277.1:p.Ile559Thr
ENST00000521657.6:c.1676T>C	ENSP00000429277.1:p.Ile559Thr
ENST00000522084.6:c.866T>C	ENSP00000429766.2:p.Ile289Thr
ENST00000523872.1:c.587T>C	ENSP00000430098.1:p.Ile196Thr
ENST00000697457.1:c.1601T>C	ENSP00000513315.1:p.Ile534Thr
ENST00000697458.1:c.1676T>C	ENSP00000513316.1:p.Ile559Thr
ENST00000697460.1:c.1151T>C	ENSP00000513318.1:p.Ile384Thr
ENST00000697461.1:c.1676T>C	ENSP00000513319.1:p.Ile559Thr
ENST00000697462.1:c.866T>C	ENSP00000513320.1:p.Ile289Thr
ENST00000697463.1:n.1317T>C
ENST00000697464.1:c.*642T>C	ENSP00000513322.1:n.*642T>C
ENST00000697465.1:c.713T>C	ENSP00000513323.1:p.Ile238Thr
ENST00000697466.1:c.683T>C	ENSP00000513324.1:p.Ile228Thr
ENST00000697467.1:c.587T>C	ENSP00000513325.1:p.Ile196Thr
ENST00000697468.1:c.659T>C	ENSP00000513326.1:p.Ile220Thr
ENST00000697469.1:c.368T>C	ENSP00000513327.1:p.Ile123Thr
ENST00000697470.1:c.272T>C	ENSP00000513328.1:p.Ile91Thr
ENST00000697557.1:c.659T>C	ENSP00000513335.1:p.Ile220Thr
XM_005248542.2:c.1676T>C	XP_005248599.1:p.Ile559Thr
XM_005248542.3:c.1676T>C	XP_005248599.1:p.Ile559Thr
XM_011543493.1:c.1349T>C	XP_011541795.1:p.Ile450Thr
XM_011543493.3:c.1349T>C	XP_011541795.1:p.Ile450Thr
XM_017009585.2:c.1676T>C	XP_016865074.1:p.Ile559Thr
XM_017009586.1:c.1403T>C	XP_016865075.1:p.Ile468Thr