Canonical Allele Identifier: CA2598897256

Gene: PIK3R1

Linked Data

• dbSNP Id: rs2112065354
• gnomAD v3: 5-68250468-T-G
• gnomAD v4: 5-68250468-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68250468T>G , CM000667.2:g.68250468T>G	GRCh38
NC_000005.9:g.67546296T>G , CM000667.1:g.67546296T>G	GRCh37
NC_000005.8:g.67582052T>G	NCBI36
NG_012849.2:g.39713T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-22922T>G
ENST00000517643.2:c.335-22922T>G	ENSP00000513333.1:n.335-22922T>G
ENST00000521657.6:c.335-22922T>G	ENSP00000429277.1:n.335-22922T>G
ENST00000697457.1:c.335-22922T>G	ENSP00000513315.1:n.335-22922T>G
ENST00000697458.1:c.335-22922T>G	ENSP00000513316.1:n.335-22922T>G
ENST00000697460.1:c.-192+22269T>G	ENSP00000513318.1:n.-192+22269T>G
ENST00000697461.1:c.335-22922T>G	ENSP00000513319.1:n.335-22922T>G
ENST00000697556.1:c.334+23459T>G	ENSP00000513334.1:n.334+23459T>G
ENST00000521381.6:c.335-22922T>G MANE Select	ENSP00000428056.1:n.335-22922T>G
ENST00000517412.1:n.574-22922T>G
ENST00000520675.1:c.40+10531T>G	ENSP00000428566.1:n.40+10531T>G
ENST00000521381.5:c.335-22922T>G	ENSP00000428056.1:n.335-22922T>G
ENST00000521657.5:c.335-22922T>G	ENSP00000429277.1:n.335-22922T>G
NM_181523.2:c.335-22922T>G	NP_852664.1:n.335-22922T>G
XM_005248542.2:c.335-22922T>G	XP_005248599.1:n.335-22922T>G
XM_005248542.3:c.335-22922T>G	XP_005248599.1:n.335-22922T>G
XM_017009585.2:c.335-22922T>G	XP_016865074.1:n.335-22922T>G
XM_017009586.1:c.61+10531T>G	XP_016865075.1:n.61+10531T>G
NM_181523.3:c.335-22922T>G MANE Select	NP_852664.1:n.335-22922T>G