Canonical Allele Identifier: CA344799

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 60763
• ClinVar RCV Id: RCV000054534 ; RCV000515192 ; RCV000414540 ; RCV001197921 ; RCV001265992
• dbSNP Id: rs397515453
• COSMIC: COSM1069652 ; COSM1595570 ; COSM1595571
• MyVariant Identifiers: chr5:g.67592129C>T (hg19) ; chr5:g.68296301C>T (hg38)
• PubMed: PMID:6407320 ; PMID:8574420 ; PMID:11135494 ; PMID:12514365 ; PMID:18384141 ; PMID:23810378 ; PMID:23810379 ; PMID:23810382 ; PMID:24830046 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68296301C>T , CM000667.2:g.68296301C>T	GRCh38
NC_000005.9:g.67592129C>T , CM000667.1:g.67592129C>T	GRCh37
NC_000005.8:g.67627885C>T	NCBI36
NG_012849.2:g.85546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.1045C>T	ENSP00000323512.8:p.Arg349Trp
ENST00000336483.10:c.1135C>T	ENSP00000338554.5:p.Arg379Trp
ENST00000517643.2:c.1945C>T	ENSP00000513333.1:p.Arg649Trp
ENST00000517698.6:c.*915C>T	ENSP00000430424.1:n.*915C>T
ENST00000521657.6:c.1945C>T	ENSP00000429277.1:p.Arg649Trp
ENST00000522084.6:c.1135C>T	ENSP00000429766.2:p.Arg379Trp
ENST00000697457.1:c.1870C>T	ENSP00000513315.1:p.Arg624Trp
ENST00000697458.1:c.1945C>T	ENSP00000513316.1:p.Arg649Trp
ENST00000697460.1:c.1420C>T	ENSP00000513318.1:p.Arg474Trp
ENST00000697461.1:c.1969C>T	ENSP00000513319.1:p.Arg657Trp
ENST00000697462.1:c.1159C>T	ENSP00000513320.1:p.Arg387Trp
ENST00000697463.1:n.1610C>T
ENST00000697464.1:c.*911C>T	ENSP00000513322.1:n.*911C>T
ENST00000697465.1:c.982C>T	ENSP00000513323.1:p.Arg328Trp
ENST00000697466.1:c.952C>T	ENSP00000513324.1:p.Arg318Trp
ENST00000697467.1:c.856C>T	ENSP00000513325.1:p.Arg286Trp
ENST00000697468.1:c.928C>T	ENSP00000513326.1:p.Arg310Trp
ENST00000697469.1:c.637C>T	ENSP00000513327.1:p.Arg213Trp
ENST00000697470.1:c.541C>T	ENSP00000513328.1:p.Arg181Trp
ENST00000697557.1:c.928C>T	ENSP00000513335.1:p.Arg310Trp
ENST00000521381.6:c.1945C>T MANE Select	ENSP00000428056.1:p.Arg649Trp
ENST00000320694.12:c.1045C>T	ENSP00000323512.8:p.Arg349Trp
ENST00000336483.9:c.1135C>T	ENSP00000338554.5:p.Arg379Trp
ENST00000518813.5:n.2488C>T
ENST00000521381.5:c.1945C>T	ENSP00000428056.1:p.Arg649Trp
ENST00000521657.5:c.1945C>T	ENSP00000429277.1:p.Arg649Trp
ENST00000523872.1:c.856C>T	ENSP00000430098.1:p.Arg286Trp
NM_001242466.1:c.856C>T	NP_001229395.1:p.Arg286Trp
NM_181504.3:c.1135C>T	NP_852556.2:p.Arg379Trp
NM_181523.2:c.1945C>T	NP_852664.1:p.Arg649Trp
NM_181524.1:c.1045C>T	NP_852665.1:p.Arg349Trp
XM_005248542.2:c.1945C>T	XP_005248599.1:p.Arg649Trp
XM_011543493.1:c.1618C>T	XP_011541795.1:p.Arg540Trp
XM_005248542.3:c.1945C>T	XP_005248599.1:p.Arg649Trp
XM_011543493.3:c.1618C>T	XP_011541795.1:p.Arg540Trp
XM_017009585.2:c.1945C>T	XP_016865074.1:p.Arg649Trp
XM_017009586.1:c.1672C>T	XP_016865075.1:p.Arg558Trp
NM_181523.3:c.1945C>T MANE Select	NP_852664.1:p.Arg649Trp
NM_001242466.2:c.856C>T	NP_001229395.1:p.Arg286Trp
NM_181504.4:c.1135C>T	NP_852556.2:p.Arg379Trp
NM_181524.2:c.1045C>T	NP_852665.1:p.Arg349Trp