Canonical Allele Identifier: CA3290450

Gene: PIK3R1

Linked Data

• dbSNP Id: rs748278546
• ExAC: 5:67590978 T / G
• gnomAD v2: 5-67590978-T-G
• gnomAD v4: 5-68295150-T-G
• MyVariant Identifiers: chr5:g.67590978T>G (hg19) ; chr5:g.68295150T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295150T>G , CM000667.2:g.68295150T>G	GRCh38
NC_000005.9:g.67590978T>G , CM000667.1:g.67590978T>G	GRCh37
NC_000005.8:g.67626734T>G	NCBI36
NG_012849.2:g.84395T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.671T>G	ENSP00000323512.8:p.Ile224Ser
ENST00000336483.10:c.761T>G	ENSP00000338554.5:p.Ile254Ser
ENST00000517643.2:c.1571T>G	ENSP00000513333.1:p.Ile524Ser
ENST00000517698.6:c.*541T>G	ENSP00000430424.1:n.*541T>G
ENST00000521657.6:c.1571T>G	ENSP00000429277.1:p.Ile524Ser
ENST00000522084.6:c.761T>G	ENSP00000429766.2:p.Ile254Ser
ENST00000697457.1:c.1496T>G	ENSP00000513315.1:p.Ile499Ser
ENST00000697458.1:c.1571T>G	ENSP00000513316.1:p.Ile524Ser
ENST00000697460.1:c.1046T>G	ENSP00000513318.1:p.Ile349Ser
ENST00000697461.1:c.1571T>G	ENSP00000513319.1:p.Ile524Ser
ENST00000697462.1:c.761T>G	ENSP00000513320.1:p.Ile254Ser
ENST00000697463.1:n.1212T>G
ENST00000697464.1:c.*537T>G	ENSP00000513322.1:n.*537T>G
ENST00000697465.1:c.608T>G	ENSP00000513323.1:p.Ile203Ser
ENST00000697466.1:c.578T>G	ENSP00000513324.1:p.Ile193Ser
ENST00000697467.1:c.482T>G	ENSP00000513325.1:p.Ile161Ser
ENST00000697468.1:c.554T>G	ENSP00000513326.1:p.Ile185Ser
ENST00000697469.1:c.263T>G	ENSP00000513327.1:p.Ile88Ser
ENST00000697470.1:c.167T>G	ENSP00000513328.1:p.Ile56Ser
ENST00000697557.1:c.554T>G	ENSP00000513335.1:p.Ile185Ser
ENST00000521381.6:c.1571T>G MANE Select	ENSP00000428056.1:p.Ile524Ser
ENST00000320694.12:c.671T>G	ENSP00000323512.8:p.Ile224Ser
ENST00000336483.9:c.761T>G	ENSP00000338554.5:p.Ile254Ser
ENST00000517698.5:c.*541T>G	ENSP00000430424.1:n.*541T>G
ENST00000518813.5:n.2114T>G
ENST00000520550.1:n.970T>G
ENST00000521381.5:c.1571T>G	ENSP00000428056.1:p.Ile524Ser
ENST00000521657.5:c.1571T>G	ENSP00000429277.1:p.Ile524Ser
ENST00000523872.1:c.482T>G	ENSP00000430098.1:p.Ile161Ser
NM_001242466.1:c.482T>G	NP_001229395.1:p.Ile161Ser
NM_181504.3:c.761T>G	NP_852556.2:p.Ile254Ser
NM_181523.2:c.1571T>G	NP_852664.1:p.Ile524Ser
NM_181524.1:c.671T>G	NP_852665.1:p.Ile224Ser
XM_005248542.2:c.1571T>G	XP_005248599.1:p.Ile524Ser
XM_011543493.1:c.1244T>G	XP_011541795.1:p.Ile415Ser
XM_005248542.3:c.1571T>G	XP_005248599.1:p.Ile524Ser
XM_011543493.3:c.1244T>G	XP_011541795.1:p.Ile415Ser
XM_017009585.2:c.1571T>G	XP_016865074.1:p.Ile524Ser
XM_017009586.1:c.1298T>G	XP_016865075.1:p.Ile433Ser
NM_181523.3:c.1571T>G MANE Select	NP_852664.1:p.Ile524Ser
NM_001242466.2:c.482T>G	NP_001229395.1:p.Ile161Ser
NM_181504.4:c.761T>G	NP_852556.2:p.Ile254Ser
NM_181524.2:c.671T>G	NP_852665.1:p.Ile224Ser