Canonical Allele Identifier: CA446358226

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819646C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483954C>A , CM000667.2:g.132483954C>A	GRCh38
NC_000005.9:g.131819646C>A , CM000667.1:g.131819646C>A	GRCh37
NC_000005.8:g.131847545C>A	NCBI36
NG_011450.1:g.11820G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.975G>T MANE Select	ENSP00000245414.4:p.Pro325=
ENST00000638452.2:c.-169+34265C>A	ENSP00000492349.2:n.-169+34265C>A
ENST00000638504.1:n.206+64014C>A
ENST00000638568.2:c.-311+34265C>A	ENSP00000491158.2:n.-311+34265C>A
ENST00000639899.1:n.289+34265C>A
ENST00000640655.2:c.-637-2238C>A	ENSP00000491596.2:n.-637-2238C>A
ENST00000679743.1:c.596G>T	ENSP00000505257.1:n.596G>T
ENST00000679786.1:n.130+2603G>T
ENST00000679921.1:c.292+2603G>T	ENSP00000505766.1:n.292+2603G>T
ENST00000679945.1:n.130+2603G>T
ENST00000679964.1:n.50+1713G>T
ENST00000680139.1:c.789G>T	ENSP00000506148.1:p.Pro263=
ENST00000680380.1:n.136+408G>T
ENST00000680562.1:c.423G>T	ENSP00000505853.1:p.Pro141=
ENST00000680594.1:n.136+408G>T
ENST00000680903.1:c.852G>T	ENSP00000505720.1:p.Pro284=
ENST00000681049.1:n.50+1713G>T
ENST00000681240.1:c.225G>T	ENSP00000506034.1:p.Pro75=
ENST00000681336.1:c.222G>T	ENSP00000505242.1:p.Pro74=
ENST00000681595.1:c.536G>T	ENSP00000506023.1:n.536G>T
ENST00000681634.1:n.136+408G>T
ENST00000681694.1:c.287G>T	ENSP00000506552.1:n.287G>T
ENST00000681715.1:c.473G>T	ENSP00000506545.1:n.473G>T
ENST00000245414.8:c.975G>T	ENSP00000245414.4:p.Pro325=
ENST00000405885.6:c.975G>T	ENSP00000384406.1:p.Pro325=
ENST00000472045.1:n.4284G>T
NM_002198.2:c.975G>T	NP_002189.1:p.Pro325=
XM_011543378.1:c.852G>T	XP_011541680.1:p.Pro284=
XM_011543379.1:c.723G>T	XP_011541681.1:p.Pro241=
XR_427711.2:n.1036G>T
NM_001354924.1:c.852G>T	NP_001341853.1:p.Pro284=
NM_001354925.1:c.789G>T	NP_001341854.1:p.Pro263=
NR_149068.1:n.1036G>T
XM_011543379.2:c.723G>T	XP_011541681.1:p.Pro241=
NM_002198.3:c.975G>T MANE Select	NP_002189.1:p.Pro325=