Canonical Allele Identifier: CA444672530

Gene: PIK3R1

Linked Data

• gnomAD v4: 5-68295175-G-A
• MyVariant Identifiers: chr5:g.67591003G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295175G>A , CM000667.2:g.68295175G>A	GRCh38
NC_000005.9:g.67591003G>A , CM000667.1:g.67591003G>A	GRCh37
NC_000005.8:g.67626759G>A	NCBI36
NG_012849.2:g.84420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.696G>A	ENSP00000323512.8:p.Lys232=
ENST00000336483.10:c.786G>A	ENSP00000338554.5:p.Lys262=
ENST00000517643.2:c.1596G>A	ENSP00000513333.1:p.Lys532=
ENST00000517698.6:c.*566G>A	ENSP00000430424.1:n.*566G>A
ENST00000521657.6:c.1596G>A	ENSP00000429277.1:p.Lys532=
ENST00000522084.6:c.786G>A	ENSP00000429766.2:p.Lys262=
ENST00000697457.1:c.1521G>A	ENSP00000513315.1:p.Lys507=
ENST00000697458.1:c.1596G>A	ENSP00000513316.1:p.Lys532=
ENST00000697460.1:c.1071G>A	ENSP00000513318.1:p.Lys357=
ENST00000697461.1:c.1596G>A	ENSP00000513319.1:p.Lys532=
ENST00000697462.1:c.786G>A	ENSP00000513320.1:p.Lys262=
ENST00000697463.1:n.1237G>A
ENST00000697464.1:c.*562G>A	ENSP00000513322.1:n.*562G>A
ENST00000697465.1:c.633G>A	ENSP00000513323.1:p.Lys211=
ENST00000697466.1:c.603G>A	ENSP00000513324.1:p.Lys201=
ENST00000697467.1:c.507G>A	ENSP00000513325.1:p.Lys169=
ENST00000697468.1:c.579G>A	ENSP00000513326.1:p.Lys193=
ENST00000697469.1:c.288G>A	ENSP00000513327.1:p.Lys96=
ENST00000697470.1:c.192G>A	ENSP00000513328.1:p.Lys64=
ENST00000697557.1:c.579G>A	ENSP00000513335.1:p.Lys193=
ENST00000521381.6:c.1596G>A MANE Select	ENSP00000428056.1:p.Lys532=
ENST00000320694.12:c.696G>A	ENSP00000323512.8:p.Lys232=
ENST00000336483.9:c.786G>A	ENSP00000338554.5:p.Lys262=
ENST00000517698.5:c.*566G>A	ENSP00000430424.1:n.*566G>A
ENST00000518813.5:n.2139G>A
ENST00000520550.1:n.995G>A
ENST00000521381.5:c.1596G>A	ENSP00000428056.1:p.Lys532=
ENST00000521657.5:c.1596G>A	ENSP00000429277.1:p.Lys532=
ENST00000523872.1:c.507G>A	ENSP00000430098.1:p.Lys169=
NM_001242466.1:c.507G>A	NP_001229395.1:p.Lys169=
NM_181504.3:c.786G>A	NP_852556.2:p.Lys262=
NM_181523.2:c.1596G>A	NP_852664.1:p.Lys532=
NM_181524.1:c.696G>A	NP_852665.1:p.Lys232=
XM_005248542.2:c.1596G>A	XP_005248599.1:p.Lys532=
XM_011543493.1:c.1269G>A	XP_011541795.1:p.Lys423=
XM_005248542.3:c.1596G>A	XP_005248599.1:p.Lys532=
XM_011543493.3:c.1269G>A	XP_011541795.1:p.Lys423=
XM_017009585.2:c.1596G>A	XP_016865074.1:p.Lys532=
XM_017009586.1:c.1323G>A	XP_016865075.1:p.Lys441=
NM_181523.3:c.1596G>A MANE Select	NP_852664.1:p.Lys532=
NM_001242466.2:c.507G>A	NP_001229395.1:p.Lys169=
NM_181504.4:c.786G>A	NP_852556.2:p.Lys262=
NM_181524.2:c.696G>A	NP_852665.1:p.Lys232=