Canonical Allele Identifier: CA359882594

Gene: PIK3R1

Linked Data

• MyVariant Identifiers: chr5:g.67591001A>C (hg19) ; chr5:g.68295173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295173A>C , CM000667.2:g.68295173A>C	GRCh38
NC_000005.9:g.67591001A>C , CM000667.1:g.67591001A>C	GRCh37
NC_000005.8:g.67626757A>C	NCBI36
NG_012849.2:g.84418A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.694A>C	ENSP00000323512.8:p.Lys232Gln
ENST00000336483.10:c.784A>C	ENSP00000338554.5:p.Lys262Gln
ENST00000517643.2:c.1594A>C	ENSP00000513333.1:p.Lys532Gln
ENST00000517698.6:c.*564A>C	ENSP00000430424.1:n.*564A>C
ENST00000521657.6:c.1594A>C	ENSP00000429277.1:p.Lys532Gln
ENST00000522084.6:c.784A>C	ENSP00000429766.2:p.Lys262Gln
ENST00000697457.1:c.1519A>C	ENSP00000513315.1:p.Lys507Gln
ENST00000697458.1:c.1594A>C	ENSP00000513316.1:p.Lys532Gln
ENST00000697460.1:c.1069A>C	ENSP00000513318.1:p.Lys357Gln
ENST00000697461.1:c.1594A>C	ENSP00000513319.1:p.Lys532Gln
ENST00000697462.1:c.784A>C	ENSP00000513320.1:p.Lys262Gln
ENST00000697463.1:n.1235A>C
ENST00000697464.1:c.*560A>C	ENSP00000513322.1:n.*560A>C
ENST00000697465.1:c.631A>C	ENSP00000513323.1:p.Lys211Gln
ENST00000697466.1:c.601A>C	ENSP00000513324.1:p.Lys201Gln
ENST00000697467.1:c.505A>C	ENSP00000513325.1:p.Lys169Gln
ENST00000697468.1:c.577A>C	ENSP00000513326.1:p.Lys193Gln
ENST00000697469.1:c.286A>C	ENSP00000513327.1:p.Lys96Gln
ENST00000697470.1:c.190A>C	ENSP00000513328.1:p.Lys64Gln
ENST00000697557.1:c.577A>C	ENSP00000513335.1:p.Lys193Gln
ENST00000521381.6:c.1594A>C MANE Select	ENSP00000428056.1:p.Lys532Gln
ENST00000320694.12:c.694A>C	ENSP00000323512.8:p.Lys232Gln
ENST00000336483.9:c.784A>C	ENSP00000338554.5:p.Lys262Gln
ENST00000517698.5:c.*564A>C	ENSP00000430424.1:n.*564A>C
ENST00000518813.5:n.2137A>C
ENST00000520550.1:n.993A>C
ENST00000521381.5:c.1594A>C	ENSP00000428056.1:p.Lys532Gln
ENST00000521657.5:c.1594A>C	ENSP00000429277.1:p.Lys532Gln
ENST00000523872.1:c.505A>C	ENSP00000430098.1:p.Lys169Gln
NM_001242466.1:c.505A>C	NP_001229395.1:p.Lys169Gln
NM_181504.3:c.784A>C	NP_852556.2:p.Lys262Gln
NM_181523.2:c.1594A>C	NP_852664.1:p.Lys532Gln
NM_181524.1:c.694A>C	NP_852665.1:p.Lys232Gln
XM_005248542.2:c.1594A>C	XP_005248599.1:p.Lys532Gln
XM_011543493.1:c.1267A>C	XP_011541795.1:p.Lys423Gln
XM_005248542.3:c.1594A>C	XP_005248599.1:p.Lys532Gln
XM_011543493.3:c.1267A>C	XP_011541795.1:p.Lys423Gln
XM_017009585.2:c.1594A>C	XP_016865074.1:p.Lys532Gln
XM_017009586.1:c.1321A>C	XP_016865075.1:p.Lys441Gln
NM_181523.3:c.1594A>C MANE Select	NP_852664.1:p.Lys532Gln
NM_001242466.2:c.505A>C	NP_001229395.1:p.Lys169Gln
NM_181504.4:c.784A>C	NP_852556.2:p.Lys262Gln
NM_181524.2:c.694A>C	NP_852665.1:p.Lys232Gln