Canonical Allele Identifier: CA120632414

Gene: PIK3R1

Linked Data

• dbSNP Id: rs986238237
• gnomAD v2: 5-67548476-G-C
• gnomAD v3: 5-68252648-G-C
• gnomAD v4: 5-68252648-G-C
• MyVariant Identifiers: chr5:g.67548476G>C (hg19) ; chr5:g.68252648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68252648G>C , CM000667.2:g.68252648G>C	GRCh38
NC_000005.9:g.67548476G>C , CM000667.1:g.67548476G>C	GRCh37
NC_000005.8:g.67584232G>C	NCBI36
NG_012849.2:g.41893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-20742G>C
ENST00000517643.2:c.335-20742G>C	ENSP00000513333.1:n.335-20742G>C
ENST00000521657.6:c.335-20742G>C	ENSP00000429277.1:n.335-20742G>C
ENST00000697457.1:c.335-20742G>C	ENSP00000513315.1:n.335-20742G>C
ENST00000697458.1:c.335-20742G>C	ENSP00000513316.1:n.335-20742G>C
ENST00000697460.1:c.-191-20742G>C	ENSP00000513318.1:n.-191-20742G>C
ENST00000697461.1:c.335-20742G>C	ENSP00000513319.1:n.335-20742G>C
ENST00000697556.1:c.335-21291G>C	ENSP00000513334.1:n.335-21291G>C
ENST00000521381.6:c.335-20742G>C MANE Select	ENSP00000428056.1:n.335-20742G>C
ENST00000517412.1:n.574-20742G>C
ENST00000520675.1:c.40+12711G>C	ENSP00000428566.1:n.40+12711G>C
ENST00000521381.5:c.335-20742G>C	ENSP00000428056.1:n.335-20742G>C
ENST00000521657.5:c.335-20742G>C	ENSP00000429277.1:n.335-20742G>C
NM_181523.2:c.335-20742G>C	NP_852664.1:n.335-20742G>C
XM_005248542.2:c.335-20742G>C	XP_005248599.1:n.335-20742G>C
XM_011543493.1:c.7+390G>C	XP_011541795.1:n.7+390G>C
XM_005248542.3:c.335-20742G>C	XP_005248599.1:n.335-20742G>C
XM_011543493.3:c.7+390G>C	XP_011541795.1:n.7+390G>C
XM_017009585.2:c.335-20742G>C	XP_016865074.1:n.335-20742G>C
XM_017009586.1:c.61+12711G>C	XP_016865075.1:n.61+12711G>C
NM_181523.3:c.335-20742G>C MANE Select	NP_852664.1:n.335-20742G>C