Canonical Allele Identifier: CA446358302

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819676C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483984C>T , CM000667.2:g.132483984C>T	GRCh38
NC_000005.9:g.131819676C>T , CM000667.1:g.131819676C>T	GRCh37
NC_000005.8:g.131847575C>T	NCBI36
NG_011450.1:g.11790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.945G>A MANE Select	ENSP00000245414.4:p.Leu315=
ENST00000638452.2:c.-169+34295C>T	ENSP00000492349.2:n.-169+34295C>T
ENST00000638504.1:n.206+64044C>T
ENST00000638568.2:c.-311+34295C>T	ENSP00000491158.2:n.-311+34295C>T
ENST00000639899.1:n.289+34295C>T
ENST00000640655.2:c.-637-2208C>T	ENSP00000491596.2:n.-637-2208C>T
ENST00000679743.1:c.566G>A	ENSP00000505257.1:n.566G>A
ENST00000679786.1:n.130+2573G>A
ENST00000679860.1:c.233G>A
ENST00000679921.1:c.292+2573G>A	ENSP00000505766.1:n.292+2573G>A
ENST00000679945.1:n.130+2573G>A
ENST00000679964.1:n.50+1683G>A
ENST00000680139.1:c.759G>A	ENSP00000506148.1:p.Leu253=
ENST00000680380.1:n.136+378G>A
ENST00000680562.1:c.393G>A	ENSP00000505853.1:p.Leu131=
ENST00000680594.1:n.136+378G>A
ENST00000680903.1:c.822G>A	ENSP00000505720.1:p.Leu274=
ENST00000681049.1:n.50+1683G>A
ENST00000681240.1:c.195G>A	ENSP00000506034.1:p.Leu65=
ENST00000681336.1:c.192G>A	ENSP00000505242.1:p.Leu64=
ENST00000681462.1:c.782G>A
ENST00000681595.1:c.506G>A	ENSP00000506023.1:n.506G>A
ENST00000681634.1:n.136+378G>A
ENST00000681694.1:c.257G>A	ENSP00000506552.1:n.257G>A
ENST00000681715.1:c.443G>A	ENSP00000506545.1:n.443G>A
ENST00000245414.8:c.945G>A	ENSP00000245414.4:p.Leu315=
ENST00000405885.6:c.945G>A	ENSP00000384406.1:p.Leu315=
ENST00000472045.1:n.4254G>A
NM_002198.2:c.945G>A	NP_002189.1:p.Leu315=
XM_011543378.1:c.822G>A	XP_011541680.1:p.Leu274=
XM_011543379.1:c.693G>A	XP_011541681.1:p.Leu231=
XR_427711.2:n.1006G>A
NM_001354924.1:c.822G>A	NP_001341853.1:p.Leu274=
NM_001354925.1:c.759G>A	NP_001341854.1:p.Leu253=
NR_149068.1:n.1006G>A
XM_011543379.2:c.693G>A	XP_011541681.1:p.Leu231=
NM_002198.3:c.945G>A MANE Select	NP_002189.1:p.Leu315=