Canonical Allele Identifier: CA360814016

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819753T>A (hg19) ; chr5:g.132484061T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484061T>A , CM000667.2:g.132484061T>A	GRCh38
NC_000005.9:g.131819753T>A , CM000667.1:g.131819753T>A	GRCh37
NC_000005.8:g.131847652T>A	NCBI36
NG_011450.1:g.11713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.868A>T MANE Select	ENSP00000245414.4:p.Ser290Cys
ENST00000613424.5:c.*89A>T	ENSP00000480887.1:n.*89A>T
ENST00000638452.2:c.-169+34372T>A	ENSP00000492349.2:n.-169+34372T>A
ENST00000638504.1:n.206+64121T>A
ENST00000638568.2:c.-311+34372T>A	ENSP00000491158.2:n.-311+34372T>A
ENST00000639899.1:n.289+34372T>A
ENST00000640655.2:c.-637-2131T>A	ENSP00000491596.2:n.-637-2131T>A
ENST00000679743.1:c.489A>T	ENSP00000505257.1:n.489A>T
ENST00000679786.1:n.130+2496A>T
ENST00000679860.1:c.156A>T
ENST00000679921.1:c.292+2496A>T	ENSP00000505766.1:n.292+2496A>T
ENST00000679945.1:n.130+2496A>T
ENST00000679964.1:n.50+1606A>T
ENST00000680139.1:c.682A>T	ENSP00000506148.1:p.Ser228Cys
ENST00000680380.1:n.136+301A>T
ENST00000680562.1:c.316A>T	ENSP00000505853.1:p.Ser106Cys
ENST00000680594.1:n.136+301A>T
ENST00000680903.1:c.745A>T	ENSP00000505720.1:p.Ser249Cys
ENST00000681049.1:n.50+1606A>T
ENST00000681240.1:c.118A>T	ENSP00000506034.1:p.Ser40Cys
ENST00000681336.1:c.137-22A>T	ENSP00000505242.1:n.137-22A>T
ENST00000681462.1:c.705A>T
ENST00000681595.1:c.429A>T	ENSP00000506023.1:n.429A>T
ENST00000681634.1:n.136+301A>T
ENST00000681694.1:c.180A>T	ENSP00000506552.1:p.Ter60Cys
ENST00000681715.1:c.366A>T	ENSP00000506545.1:n.366A>T
ENST00000245414.8:c.868A>T	ENSP00000245414.4:p.Ser290Cys
ENST00000405885.6:c.868A>T	ENSP00000384406.1:p.Ser290Cys
ENST00000472045.1:n.4177A>T
ENST00000613424.4:c.*89A>T	ENSP00000480887.1:n.*89A>T
NM_002198.2:c.868A>T	NP_002189.1:p.Ser290Cys
XM_011543378.1:c.745A>T	XP_011541680.1:p.Ser249Cys
XM_011543379.1:c.616A>T	XP_011541681.1:p.Ser206Cys
XR_427711.2:n.929A>T
NM_001354924.1:c.745A>T	NP_001341853.1:p.Ser249Cys
NM_001354925.1:c.682A>T	NP_001341854.1:p.Ser228Cys
NR_149068.1:n.929A>T
XM_011543379.2:c.616A>T	XP_011541681.1:p.Ser206Cys
NM_002198.3:c.868A>T MANE Select	NP_002189.1:p.Ser290Cys