Canonical Allele Identifier: CA359882611

Gene: PIK3R1

Linked Data

• gnomAD v4: 5-68295174-A-C
• MyVariant Identifiers: chr5:g.67591002A>C (hg19) ; chr5:g.68295174A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295174A>C , CM000667.2:g.68295174A>C	GRCh38
NC_000005.9:g.67591002A>C , CM000667.1:g.67591002A>C	GRCh37
NC_000005.8:g.67626758A>C	NCBI36
NG_012849.2:g.84419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.695A>C	ENSP00000323512.8:p.Lys232Thr
ENST00000336483.10:c.785A>C	ENSP00000338554.5:p.Lys262Thr
ENST00000517643.2:c.1595A>C	ENSP00000513333.1:p.Lys532Thr
ENST00000517698.6:c.*565A>C	ENSP00000430424.1:n.*565A>C
ENST00000521657.6:c.1595A>C	ENSP00000429277.1:p.Lys532Thr
ENST00000522084.6:c.785A>C	ENSP00000429766.2:p.Lys262Thr
ENST00000697457.1:c.1520A>C	ENSP00000513315.1:p.Lys507Thr
ENST00000697458.1:c.1595A>C	ENSP00000513316.1:p.Lys532Thr
ENST00000697460.1:c.1070A>C	ENSP00000513318.1:p.Lys357Thr
ENST00000697461.1:c.1595A>C	ENSP00000513319.1:p.Lys532Thr
ENST00000697462.1:c.785A>C	ENSP00000513320.1:p.Lys262Thr
ENST00000697463.1:n.1236A>C
ENST00000697464.1:c.*561A>C	ENSP00000513322.1:n.*561A>C
ENST00000697465.1:c.632A>C	ENSP00000513323.1:p.Lys211Thr
ENST00000697466.1:c.602A>C	ENSP00000513324.1:p.Lys201Thr
ENST00000697467.1:c.506A>C	ENSP00000513325.1:p.Lys169Thr
ENST00000697468.1:c.578A>C	ENSP00000513326.1:p.Lys193Thr
ENST00000697469.1:c.287A>C	ENSP00000513327.1:p.Lys96Thr
ENST00000697470.1:c.191A>C	ENSP00000513328.1:p.Lys64Thr
ENST00000697557.1:c.578A>C	ENSP00000513335.1:p.Lys193Thr
ENST00000521381.6:c.1595A>C MANE Select	ENSP00000428056.1:p.Lys532Thr
ENST00000320694.12:c.695A>C	ENSP00000323512.8:p.Lys232Thr
ENST00000336483.9:c.785A>C	ENSP00000338554.5:p.Lys262Thr
ENST00000517698.5:c.*565A>C	ENSP00000430424.1:n.*565A>C
ENST00000518813.5:n.2138A>C
ENST00000520550.1:n.994A>C
ENST00000521381.5:c.1595A>C	ENSP00000428056.1:p.Lys532Thr
ENST00000521657.5:c.1595A>C	ENSP00000429277.1:p.Lys532Thr
ENST00000523872.1:c.506A>C	ENSP00000430098.1:p.Lys169Thr
NM_001242466.1:c.506A>C	NP_001229395.1:p.Lys169Thr
NM_181504.3:c.785A>C	NP_852556.2:p.Lys262Thr
NM_181523.2:c.1595A>C	NP_852664.1:p.Lys532Thr
NM_181524.1:c.695A>C	NP_852665.1:p.Lys232Thr
XM_005248542.2:c.1595A>C	XP_005248599.1:p.Lys532Thr
XM_011543493.1:c.1268A>C	XP_011541795.1:p.Lys423Thr
XM_005248542.3:c.1595A>C	XP_005248599.1:p.Lys532Thr
XM_011543493.3:c.1268A>C	XP_011541795.1:p.Lys423Thr
XM_017009585.2:c.1595A>C	XP_016865074.1:p.Lys532Thr
XM_017009586.1:c.1322A>C	XP_016865075.1:p.Lys441Thr
NM_181523.3:c.1595A>C MANE Select	NP_852664.1:p.Lys532Thr
NM_001242466.2:c.506A>C	NP_001229395.1:p.Lys169Thr
NM_181504.4:c.785A>C	NP_852556.2:p.Lys262Thr
NM_181524.2:c.695A>C	NP_852665.1:p.Lys232Thr