Canonical Allele Identifier: CA360814013

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819752C>A (hg19) ; chr5:g.132484060C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484060C>A , CM000667.2:g.132484060C>A	GRCh38
NC_000005.9:g.131819752C>A , CM000667.1:g.131819752C>A	GRCh37
NC_000005.8:g.131847651C>A	NCBI36
NG_011450.1:g.11714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.869G>T MANE Select	ENSP00000245414.4:p.Ser290Ile
ENST00000613424.5:c.*90G>T	ENSP00000480887.1:n.*90G>T
ENST00000638452.2:c.-169+34371C>A	ENSP00000492349.2:n.-169+34371C>A
ENST00000638504.1:n.206+64120C>A
ENST00000638568.2:c.-311+34371C>A	ENSP00000491158.2:n.-311+34371C>A
ENST00000639899.1:n.289+34371C>A
ENST00000640655.2:c.-637-2132C>A	ENSP00000491596.2:n.-637-2132C>A
ENST00000679743.1:c.490G>T	ENSP00000505257.1:n.490G>T
ENST00000679786.1:n.130+2497G>T
ENST00000679860.1:c.157G>T
ENST00000679921.1:c.292+2497G>T	ENSP00000505766.1:n.292+2497G>T
ENST00000679945.1:n.130+2497G>T
ENST00000679964.1:n.50+1607G>T
ENST00000680139.1:c.683G>T	ENSP00000506148.1:p.Ser228Ile
ENST00000680380.1:n.136+302G>T
ENST00000680562.1:c.317G>T	ENSP00000505853.1:p.Ser106Ile
ENST00000680594.1:n.136+302G>T
ENST00000680903.1:c.746G>T	ENSP00000505720.1:p.Ser249Ile
ENST00000681049.1:n.50+1607G>T
ENST00000681240.1:c.119G>T	ENSP00000506034.1:p.Ser40Ile
ENST00000681336.1:c.137-21G>T	ENSP00000505242.1:n.137-21G>T
ENST00000681462.1:c.706G>T
ENST00000681595.1:c.430G>T	ENSP00000506023.1:n.430G>T
ENST00000681634.1:n.136+302G>T
ENST00000681694.1:c.181G>T	ENSP00000506552.1:n.181G>T
ENST00000681715.1:c.367G>T	ENSP00000506545.1:n.367G>T
ENST00000245414.8:c.869G>T	ENSP00000245414.4:p.Ser290Ile
ENST00000405885.6:c.869G>T	ENSP00000384406.1:p.Ser290Ile
ENST00000472045.1:n.4178G>T
ENST00000613424.4:c.*90G>T	ENSP00000480887.1:n.*90G>T
NM_002198.2:c.869G>T	NP_002189.1:p.Ser290Ile
XM_011543378.1:c.746G>T	XP_011541680.1:p.Ser249Ile
XM_011543379.1:c.617G>T	XP_011541681.1:p.Ser206Ile
XR_427711.2:n.930G>T
NM_001354924.1:c.746G>T	NP_001341853.1:p.Ser249Ile
NM_001354925.1:c.683G>T	NP_001341854.1:p.Ser228Ile
NR_149068.1:n.930G>T
XM_011543379.2:c.617G>T	XP_011541681.1:p.Ser206Ile
NM_002198.3:c.869G>T MANE Select	NP_002189.1:p.Ser290Ile