Canonical Allele Identifier: CA446358559

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819709G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484017G>C , CM000667.2:g.132484017G>C	GRCh38
NC_000005.9:g.131819709G>C , CM000667.1:g.131819709G>C	GRCh37
NC_000005.8:g.131847608G>C	NCBI36
NG_011450.1:g.11757C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.912C>G MANE Select	ENSP00000245414.4:p.Thr304=
ENST00000638452.2:c.-169+34328G>C	ENSP00000492349.2:n.-169+34328G>C
ENST00000638504.1:n.206+64077G>C
ENST00000638568.2:c.-311+34328G>C	ENSP00000491158.2:n.-311+34328G>C
ENST00000639899.1:n.289+34328G>C
ENST00000640655.2:c.-637-2175G>C	ENSP00000491596.2:n.-637-2175G>C
ENST00000679743.1:c.533C>G	ENSP00000505257.1:n.533C>G
ENST00000679786.1:n.130+2540C>G
ENST00000679860.1:c.200C>G
ENST00000679921.1:c.292+2540C>G	ENSP00000505766.1:n.292+2540C>G
ENST00000679945.1:n.130+2540C>G
ENST00000679964.1:n.50+1650C>G
ENST00000680139.1:c.726C>G	ENSP00000506148.1:p.Thr242=
ENST00000680380.1:n.136+345C>G
ENST00000680562.1:c.360C>G	ENSP00000505853.1:p.Thr120=
ENST00000680594.1:n.136+345C>G
ENST00000680903.1:c.789C>G	ENSP00000505720.1:p.Thr263=
ENST00000681049.1:n.50+1650C>G
ENST00000681240.1:c.162C>G	ENSP00000506034.1:p.Thr54=
ENST00000681336.1:c.159C>G	ENSP00000505242.1:p.Thr53=
ENST00000681462.1:c.749C>G
ENST00000681595.1:c.473C>G	ENSP00000506023.1:n.473C>G
ENST00000681634.1:n.136+345C>G
ENST00000681694.1:c.224C>G	ENSP00000506552.1:n.224C>G
ENST00000681715.1:c.410C>G	ENSP00000506545.1:n.410C>G
ENST00000245414.8:c.912C>G	ENSP00000245414.4:p.Thr304=
ENST00000405885.6:c.912C>G	ENSP00000384406.1:p.Thr304=
ENST00000472045.1:n.4221C>G
NM_002198.2:c.912C>G	NP_002189.1:p.Thr304=
XM_011543378.1:c.789C>G	XP_011541680.1:p.Thr263=
XM_011543379.1:c.660C>G	XP_011541681.1:p.Thr220=
XR_427711.2:n.973C>G
NM_001354924.1:c.789C>G	NP_001341853.1:p.Thr263=
NM_001354925.1:c.726C>G	NP_001341854.1:p.Thr242=
NR_149068.1:n.973C>G
XM_011543379.2:c.660C>G	XP_011541681.1:p.Thr220=
NM_002198.3:c.912C>G MANE Select	NP_002189.1:p.Thr304=