Canonical Allele Identifier: CA359883051

Gene: PIK3R1

Linked Data

• MyVariant Identifiers: chr5:g.67591103A>C (hg19) ; chr5:g.68295275A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295275A>C , CM000667.2:g.68295275A>C	GRCh38
NC_000005.9:g.67591103A>C , CM000667.1:g.67591103A>C	GRCh37
NC_000005.8:g.67626859A>C	NCBI36
NG_012849.2:g.84520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.796A>C	ENSP00000323512.8:p.Ile266Leu
ENST00000336483.10:c.886A>C	ENSP00000338554.5:p.Ile296Leu
ENST00000517643.2:c.1696A>C	ENSP00000513333.1:p.Ile566Leu
ENST00000517698.6:c.*666A>C	ENSP00000430424.1:n.*666A>C
ENST00000521657.6:c.1696A>C	ENSP00000429277.1:p.Ile566Leu
ENST00000522084.6:c.886A>C	ENSP00000429766.2:p.Ile296Leu
ENST00000697457.1:c.1621A>C	ENSP00000513315.1:p.Ile541Leu
ENST00000697458.1:c.1696A>C	ENSP00000513316.1:p.Ile566Leu
ENST00000697460.1:c.1171A>C	ENSP00000513318.1:p.Ile391Leu
ENST00000697461.1:c.1696A>C	ENSP00000513319.1:p.Ile566Leu
ENST00000697462.1:c.886A>C	ENSP00000513320.1:p.Ile296Leu
ENST00000697463.1:n.1337A>C
ENST00000697464.1:c.*662A>C	ENSP00000513322.1:n.*662A>C
ENST00000697465.1:c.733A>C	ENSP00000513323.1:p.Ile245Leu
ENST00000697466.1:c.703A>C	ENSP00000513324.1:p.Ile235Leu
ENST00000697467.1:c.607A>C	ENSP00000513325.1:p.Ile203Leu
ENST00000697468.1:c.679A>C	ENSP00000513326.1:p.Ile227Leu
ENST00000697469.1:c.388A>C	ENSP00000513327.1:p.Ile130Leu
ENST00000697470.1:c.292A>C	ENSP00000513328.1:p.Ile98Leu
ENST00000697557.1:c.679A>C	ENSP00000513335.1:p.Ile227Leu
ENST00000521381.6:c.1696A>C MANE Select	ENSP00000428056.1:p.Ile566Leu
ENST00000320694.12:c.796A>C	ENSP00000323512.8:p.Ile266Leu
ENST00000336483.9:c.886A>C	ENSP00000338554.5:p.Ile296Leu
ENST00000517698.5:c.*666A>C	ENSP00000430424.1:n.*666A>C
ENST00000518813.5:n.2239A>C
ENST00000520550.1:n.1095A>C
ENST00000521381.5:c.1696A>C	ENSP00000428056.1:p.Ile566Leu
ENST00000521657.5:c.1696A>C	ENSP00000429277.1:p.Ile566Leu
ENST00000523872.1:c.607A>C	ENSP00000430098.1:p.Ile203Leu
NM_001242466.1:c.607A>C	NP_001229395.1:p.Ile203Leu
NM_181504.3:c.886A>C	NP_852556.2:p.Ile296Leu
NM_181523.2:c.1696A>C	NP_852664.1:p.Ile566Leu
NM_181524.1:c.796A>C	NP_852665.1:p.Ile266Leu
XM_005248542.2:c.1696A>C	XP_005248599.1:p.Ile566Leu
XM_011543493.1:c.1369A>C	XP_011541795.1:p.Ile457Leu
XM_005248542.3:c.1696A>C	XP_005248599.1:p.Ile566Leu
XM_011543493.3:c.1369A>C	XP_011541795.1:p.Ile457Leu
XM_017009585.2:c.1696A>C	XP_016865074.1:p.Ile566Leu
XM_017009586.1:c.1423A>C	XP_016865075.1:p.Ile475Leu
NM_181523.3:c.1696A>C MANE Select	NP_852664.1:p.Ile566Leu
NM_001242466.2:c.607A>C	NP_001229395.1:p.Ile203Leu
NM_181504.4:c.886A>C	NP_852556.2:p.Ile296Leu
NM_181524.2:c.796A>C	NP_852665.1:p.Ile266Leu