Canonical Allele Identifier: CA143690

Gene: PIK3R5

Linked Data

• ClinVar Variation Id: 48651
• ClinVar RCV Id: RCV000041972
• dbSNP Id: rs61761068
• ExAC: 17:8790433 G / A
• gnomAD v2: 17-8790433-G-A
• gnomAD v3: 17-8887116-G-A
• gnomAD v4: 17-8887116-G-A
• MyVariant Identifiers: chr17:g.8790433G>A (hg19) ; chr17:g.8887116G>A (hg38)
• PubMed: PMID:22065524

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8887116G>A , CM000679.2:g.8887116G>A	GRCh38
NC_000017.10:g.8790433G>A , CM000679.1:g.8790433G>A	GRCh37
NC_000017.9:g.8731158G>A	NCBI36
NG_030374.1:g.83597C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447110.6:c.1885C>T MANE Select	ENSP00000392812.1:p.Pro629Ser
ENST00000269300.8:c.*1074C>T	ENSP00000269300.3:n.*1074C>T
ENST00000447110.5:c.1885C>T	ENSP00000392812.1:p.Pro629Ser
ENST00000577214.1:n.155C>T
ENST00000578515.5:n.2010C>T
ENST00000581552.5:c.1885C>T	ENSP00000462433.1:p.Pro629Ser
ENST00000584803.1:c.1885C>T	ENSP00000462680.1:p.Pro629Ser
ENST00000611902.4:c.727C>T	ENSP00000477795.1:p.Pro243Ser
ENST00000616147.4:c.727C>T	ENSP00000484211.1:p.Pro243Ser
ENST00000623421.3:c.727C>T	ENSP00000485280.1:p.Pro243Ser
NM_001142633.2:c.1885C>T	NP_001136105.1:p.Pro629Ser
NM_001251851.1:c.727C>T	NP_001238780.1:p.Pro243Ser
NM_001251852.1:c.727C>T	NP_001238781.1:p.Pro243Ser
NM_001251853.1:c.727C>T	NP_001238782.1:p.Pro243Ser
NM_001251855.1:c.727C>T	NP_001238784.1:p.Pro243Ser
NM_014308.3:c.1885C>T	NP_055123.2:p.Pro629Ser
XM_005256579.3:c.1885C>T	XP_005256636.1:p.Pro629Ser
XM_005256580.3:c.1885C>T	XP_005256637.1:p.Pro629Ser
XM_011523778.1:c.847C>T	XP_011522080.1:p.Pro283Ser
NM_001251851.2:c.727C>T	NP_001238780.1:p.Pro243Ser
NM_001142633.3:c.1885C>T MANE Select	NP_001136105.1:p.Pro629Ser
NM_001251852.2:c.727C>T	NP_001238781.1:p.Pro243Ser
NM_001251853.2:c.727C>T	NP_001238782.1:p.Pro243Ser
NM_001251855.2:c.727C>T	NP_001238784.1:p.Pro243Ser
NM_001388396.1:c.1885C>T	NP_001375325.1:p.Pro629Ser
NM_001388397.1:c.727C>T	NP_001375326.1:p.Pro243Ser
NM_001388398.1:c.727C>T	NP_001375327.1:p.Pro243Ser
NM_001388399.1:c.727C>T	NP_001375328.1:p.Pro243Ser
NM_001388400.1:c.727C>T	NP_001375329.1:p.Pro243Ser
NM_014308.4:c.1885C>T	NP_055123.2:p.Pro629Ser