Canonical Allele Identifier: CA2740091744
Community Standard Title: NM_181523.3(PIK3R1):c.1985+4T>G
Gene: PIK3R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68296345T>G , CM000667.2:g.68296345T>G GRCh38
NC_000005.9:g.67592173T>G , CM000667.1:g.67592173T>G GRCh37
NC_000005.8:g.67627929T>G NCBI36
NG_012849.2:g.85590T>G

Transcript Alleles

HGVS Amino-acid Change
NM_181523.3:c.1985+4T>G MANE Select NP_852664.1:n.1985+4T>G
ENST00000521381.6:c.1985+4T>G MANE Select ENSP00000428056.1:n.1985+4T>G
NM_001242466.1:c.896+4T>G NP_001229395.1:n.896+4T>G
NM_001242466.2:c.896+4T>G NP_001229395.1:n.896+4T>G
NM_181504.3:c.1175+4T>G NP_852556.2:n.1175+4T>G
NM_181504.4:c.1175+4T>G NP_852556.2:n.1175+4T>G
NM_181523.2:c.1985+4T>G NP_852664.1:n.1985+4T>G
NM_181524.1:c.1085+4T>G NP_852665.1:n.1085+4T>G
NM_181524.2:c.1085+4T>G NP_852665.1:n.1085+4T>G
ENST00000320694.12:c.1085+4T>G ENSP00000323512.8:n.1085+4T>G
ENST00000320694.13:c.1085+4T>G ENSP00000323512.8:n.1085+4T>G
ENST00000336483.10:c.1175+4T>G ENSP00000338554.5:n.1175+4T>G
ENST00000336483.9:c.1175+4T>G ENSP00000338554.5:n.1175+4T>G
ENST00000517643.2:c.1985+4T>G ENSP00000513333.1:n.1985+4T>G
ENST00000517698.6:c.*955+4T>G ENSP00000430424.1:n.*955+4T>G
ENST00000518813.5:n.2528+4T>G
ENST00000521381.5:c.1985+4T>G ENSP00000428056.1:n.1985+4T>G
ENST00000521657.5:c.1985+4T>G ENSP00000429277.1:n.1985+4T>G
ENST00000521657.6:c.1985+4T>G ENSP00000429277.1:n.1985+4T>G
ENST00000522084.6:c.1175+4T>G ENSP00000429766.2:n.1175+4T>G
ENST00000523872.1:c.896+4T>G ENSP00000430098.1:n.896+4T>G
ENST00000697457.1:c.1910+4T>G ENSP00000513315.1:n.1910+4T>G
ENST00000697458.1:c.1985+4T>G ENSP00000513316.1:n.1985+4T>G
ENST00000697460.1:c.1460+4T>G ENSP00000513318.1:n.1460+4T>G
ENST00000697461.1:c.2009+4T>G ENSP00000513319.1:n.2009+4T>G
ENST00000697462.1:c.1199+4T>G ENSP00000513320.1:n.1199+4T>G
ENST00000697463.1:n.1650+4T>G
ENST00000697464.1:c.*951+4T>G ENSP00000513322.1:n.*951+4T>G
ENST00000697465.1:c.1022+4T>G ENSP00000513323.1:n.1022+4T>G
ENST00000697466.1:c.992+4T>G ENSP00000513324.1:n.992+4T>G
ENST00000697467.1:c.896+4T>G ENSP00000513325.1:n.896+4T>G
ENST00000697468.1:c.968+4T>G ENSP00000513326.1:n.968+4T>G
ENST00000697469.1:c.677+4T>G ENSP00000513327.1:n.677+4T>G
ENST00000697470.1:c.585T>G ENSP00000513328.1:p.Tyr195Ter
ENST00000697557.1:c.968+4T>G ENSP00000513335.1:n.968+4T>G
XM_005248542.2:c.1985+4T>G XP_005248599.1:n.1985+4T>G
XM_005248542.3:c.1985+4T>G XP_005248599.1:n.1985+4T>G
XM_011543493.1:c.1658+4T>G XP_011541795.1:n.1658+4T>G
XM_011543493.3:c.1658+4T>G XP_011541795.1:n.1658+4T>G
XM_017009585.2:c.1985+4T>G XP_016865074.1:n.1985+4T>G
XM_017009586.1:c.1712+4T>G XP_016865075.1:n.1712+4T>G