Canonical Allele Identifier: CA359876060
Community Standard Title: NM_181523.3(PIK3R1):c.916+2T>C
Gene: PIK3R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68281008T>C , CM000667.2:g.68281008T>C GRCh38
NC_000005.9:g.67576836T>C , CM000667.1:g.67576836T>C GRCh37
NC_000005.8:g.67612592T>C NCBI36
NG_012849.2:g.70253T>C

Transcript Alleles

HGVS Amino-acid Change
NM_181523.3:c.916+2T>C MANE Select NP_852664.1:n.916+2T>C
ENST00000521381.6:c.916+2T>C MANE Select ENSP00000428056.1:n.916+2T>C
NM_181523.2:c.916+2T>C NP_852664.1:n.916+2T>C
ENST00000517643.2:c.916+2T>C ENSP00000513333.1:n.916+2T>C
ENST00000521381.5:c.916+2T>C ENSP00000428056.1:n.916+2T>C
ENST00000521657.5:c.916+2T>C ENSP00000429277.1:n.916+2T>C
ENST00000521657.6:c.916+2T>C ENSP00000429277.1:n.916+2T>C
ENST00000522084.5:c.106+2T>C ENSP00000429766.1:n.106+2T>C
ENST00000522084.6:c.106+2T>C ENSP00000429766.2:n.106+2T>C
ENST00000523807.5:c.106+2T>C ENSP00000430126.1:n.106+2T>C
ENST00000697457.1:c.841+2T>C ENSP00000513315.1:n.841+2T>C
ENST00000697458.1:c.916+2T>C ENSP00000513316.1:n.916+2T>C
ENST00000697460.1:c.391+2T>C ENSP00000513318.1:n.391+2T>C
ENST00000697461.1:c.916+2T>C ENSP00000513319.1:n.916+2T>C
ENST00000697556.1:c.823+2T>C ENSP00000513334.1:n.823+2T>C
XM_005248542.2:c.916+2T>C XP_005248599.1:n.916+2T>C
XM_005248542.3:c.916+2T>C XP_005248599.1:n.916+2T>C
XM_011543493.1:c.589+2T>C XP_011541795.1:n.589+2T>C
XM_011543493.3:c.589+2T>C XP_011541795.1:n.589+2T>C
XM_017009585.2:c.916+2T>C XP_016865074.1:n.916+2T>C
XM_017009586.1:c.643+2T>C XP_016865075.1:n.643+2T>C