Canonical Allele Identifier: CA360814025

Gene: IRF1

Linked Data

• gnomAD v4: 5-132484066-C-T
• MyVariant Identifiers: chr5:g.131819758C>T (hg19) ; chr5:g.132484066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484066C>T , CM000667.2:g.132484066C>T	GRCh38
NC_000005.9:g.131819758C>T , CM000667.1:g.131819758C>T	GRCh37
NC_000005.8:g.131847657C>T	NCBI36
NG_011450.1:g.11708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.863G>A MANE Select	ENSP00000245414.4:p.Gly288Glu
ENST00000613424.5:c.*84G>A	ENSP00000480887.1:n.*84G>A
ENST00000638452.2:c.-169+34377C>T	ENSP00000492349.2:n.-169+34377C>T
ENST00000638504.1:n.206+64126C>T
ENST00000638568.2:c.-311+34377C>T	ENSP00000491158.2:n.-311+34377C>T
ENST00000639899.1:n.289+34377C>T
ENST00000640655.2:c.-637-2126C>T	ENSP00000491596.2:n.-637-2126C>T
ENST00000679743.1:c.484G>A	ENSP00000505257.1:n.484G>A
ENST00000679786.1:n.130+2491G>A
ENST00000679860.1:c.151G>A
ENST00000679921.1:c.292+2491G>A	ENSP00000505766.1:n.292+2491G>A
ENST00000679945.1:n.130+2491G>A
ENST00000679964.1:n.50+1601G>A
ENST00000680139.1:c.677G>A	ENSP00000506148.1:p.Gly226Glu
ENST00000680380.1:n.136+296G>A
ENST00000680562.1:c.311G>A	ENSP00000505853.1:p.Gly104Glu
ENST00000680594.1:n.136+296G>A
ENST00000680903.1:c.740G>A	ENSP00000505720.1:p.Gly247Glu
ENST00000681049.1:n.50+1601G>A
ENST00000681240.1:c.113G>A	ENSP00000506034.1:p.Gly38Glu
ENST00000681336.1:c.137-27G>A	ENSP00000505242.1:n.137-27G>A
ENST00000681462.1:c.700G>A
ENST00000681595.1:c.424G>A	ENSP00000506023.1:n.424G>A
ENST00000681634.1:n.136+296G>A
ENST00000681694.1:c.175G>A	ENSP00000506552.1:p.Gly59Ser
ENST00000681715.1:c.361G>A	ENSP00000506545.1:n.361G>A
ENST00000245414.8:c.863G>A	ENSP00000245414.4:p.Gly288Glu
ENST00000405885.6:c.863G>A	ENSP00000384406.1:p.Gly288Glu
ENST00000472045.1:n.4172G>A
ENST00000613424.4:c.*84G>A	ENSP00000480887.1:n.*84G>A
NM_002198.2:c.863G>A	NP_002189.1:p.Gly288Glu
XM_011543378.1:c.740G>A	XP_011541680.1:p.Gly247Glu
XM_011543379.1:c.611G>A	XP_011541681.1:p.Gly204Glu
XR_427711.2:n.924G>A
NM_001354924.1:c.740G>A	NP_001341853.1:p.Gly247Glu
NM_001354925.1:c.677G>A	NP_001341854.1:p.Gly226Glu
NR_149068.1:n.924G>A
XM_011543379.2:c.611G>A	XP_011541681.1:p.Gly204Glu
NM_002198.3:c.863G>A MANE Select	NP_002189.1:p.Gly288Glu