Canonical Allele Identifier: CA359882673

Gene: PIK3R1

Linked Data

• dbSNP Id: rs2112274546
• MyVariant Identifiers: chr5:g.67591011T>G (hg19) ; chr5:g.68295183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295183T>G , CM000667.2:g.68295183T>G	GRCh38
NC_000005.9:g.67591011T>G , CM000667.1:g.67591011T>G	GRCh37
NC_000005.8:g.67626767T>G	NCBI36
NG_012849.2:g.84428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.704T>G	ENSP00000323512.8:p.Ile235Ser
ENST00000336483.10:c.794T>G	ENSP00000338554.5:p.Ile265Ser
ENST00000517643.2:c.1604T>G	ENSP00000513333.1:p.Ile535Ser
ENST00000517698.6:c.*574T>G	ENSP00000430424.1:n.*574T>G
ENST00000521657.6:c.1604T>G	ENSP00000429277.1:p.Ile535Ser
ENST00000522084.6:c.794T>G	ENSP00000429766.2:p.Ile265Ser
ENST00000697457.1:c.1529T>G	ENSP00000513315.1:p.Ile510Ser
ENST00000697458.1:c.1604T>G	ENSP00000513316.1:p.Ile535Ser
ENST00000697460.1:c.1079T>G	ENSP00000513318.1:p.Ile360Ser
ENST00000697461.1:c.1604T>G	ENSP00000513319.1:p.Ile535Ser
ENST00000697462.1:c.794T>G	ENSP00000513320.1:p.Ile265Ser
ENST00000697463.1:n.1245T>G
ENST00000697464.1:c.*570T>G	ENSP00000513322.1:n.*570T>G
ENST00000697465.1:c.641T>G	ENSP00000513323.1:p.Ile214Ser
ENST00000697466.1:c.611T>G	ENSP00000513324.1:p.Ile204Ser
ENST00000697467.1:c.515T>G	ENSP00000513325.1:p.Ile172Ser
ENST00000697468.1:c.587T>G	ENSP00000513326.1:p.Ile196Ser
ENST00000697469.1:c.296T>G	ENSP00000513327.1:p.Ile99Ser
ENST00000697470.1:c.200T>G	ENSP00000513328.1:p.Ile67Ser
ENST00000697557.1:c.587T>G	ENSP00000513335.1:p.Ile196Ser
ENST00000521381.6:c.1604T>G MANE Select	ENSP00000428056.1:p.Ile535Ser
ENST00000320694.12:c.704T>G	ENSP00000323512.8:p.Ile235Ser
ENST00000336483.9:c.794T>G	ENSP00000338554.5:p.Ile265Ser
ENST00000517698.5:c.*574T>G	ENSP00000430424.1:n.*574T>G
ENST00000518813.5:n.2147T>G
ENST00000520550.1:n.1003T>G
ENST00000521381.5:c.1604T>G	ENSP00000428056.1:p.Ile535Ser
ENST00000521657.5:c.1604T>G	ENSP00000429277.1:p.Ile535Ser
ENST00000523872.1:c.515T>G	ENSP00000430098.1:p.Ile172Ser
NM_001242466.1:c.515T>G	NP_001229395.1:p.Ile172Ser
NM_181504.3:c.794T>G	NP_852556.2:p.Ile265Ser
NM_181523.2:c.1604T>G	NP_852664.1:p.Ile535Ser
NM_181524.1:c.704T>G	NP_852665.1:p.Ile235Ser
XM_005248542.2:c.1604T>G	XP_005248599.1:p.Ile535Ser
XM_011543493.1:c.1277T>G	XP_011541795.1:p.Ile426Ser
XM_005248542.3:c.1604T>G	XP_005248599.1:p.Ile535Ser
XM_011543493.3:c.1277T>G	XP_011541795.1:p.Ile426Ser
XM_017009585.2:c.1604T>G	XP_016865074.1:p.Ile535Ser
XM_017009586.1:c.1331T>G	XP_016865075.1:p.Ile444Ser
NM_181523.3:c.1604T>G MANE Select	NP_852664.1:p.Ile535Ser
NM_001242466.2:c.515T>G	NP_001229395.1:p.Ile172Ser
NM_181504.4:c.794T>G	NP_852556.2:p.Ile265Ser
NM_181524.2:c.704T>G	NP_852665.1:p.Ile235Ser