Canonical Allele Identifier: CA446358627

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819754C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484062C>A , CM000667.2:g.132484062C>A	GRCh38
NC_000005.9:g.131819754C>A , CM000667.1:g.131819754C>A	GRCh37
NC_000005.8:g.131847653C>A	NCBI36
NG_011450.1:g.11712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.867G>T MANE Select	ENSP00000245414.4:p.Leu289=
ENST00000613424.5:c.*88G>T	ENSP00000480887.1:n.*88G>T
ENST00000638452.2:c.-169+34373C>A	ENSP00000492349.2:n.-169+34373C>A
ENST00000638504.1:n.206+64122C>A
ENST00000638568.2:c.-311+34373C>A	ENSP00000491158.2:n.-311+34373C>A
ENST00000639899.1:n.289+34373C>A
ENST00000640655.2:c.-637-2130C>A	ENSP00000491596.2:n.-637-2130C>A
ENST00000679743.1:c.488G>T	ENSP00000505257.1:n.488G>T
ENST00000679786.1:n.130+2495G>T
ENST00000679860.1:c.155G>T
ENST00000679921.1:c.292+2495G>T	ENSP00000505766.1:n.292+2495G>T
ENST00000679945.1:n.130+2495G>T
ENST00000679964.1:n.50+1605G>T
ENST00000680139.1:c.681G>T	ENSP00000506148.1:p.Leu227=
ENST00000680380.1:n.136+300G>T
ENST00000680562.1:c.315G>T	ENSP00000505853.1:p.Leu105=
ENST00000680594.1:n.136+300G>T
ENST00000680903.1:c.744G>T	ENSP00000505720.1:p.Leu248=
ENST00000681049.1:n.50+1605G>T
ENST00000681240.1:c.117G>T	ENSP00000506034.1:p.Leu39=
ENST00000681336.1:c.137-23G>T	ENSP00000505242.1:n.137-23G>T
ENST00000681462.1:c.704G>T
ENST00000681595.1:c.428G>T	ENSP00000506023.1:n.428G>T
ENST00000681634.1:n.136+300G>T
ENST00000681694.1:c.179G>T	ENSP00000506552.1:p.Ter60Leu
ENST00000681715.1:c.365G>T	ENSP00000506545.1:n.365G>T
ENST00000245414.8:c.867G>T	ENSP00000245414.4:p.Leu289=
ENST00000405885.6:c.867G>T	ENSP00000384406.1:p.Leu289=
ENST00000472045.1:n.4176G>T
ENST00000613424.4:c.*88G>T	ENSP00000480887.1:n.*88G>T
NM_002198.2:c.867G>T	NP_002189.1:p.Leu289=
XM_011543378.1:c.744G>T	XP_011541680.1:p.Leu248=
XM_011543379.1:c.615G>T	XP_011541681.1:p.Leu205=
XR_427711.2:n.928G>T
NM_001354924.1:c.744G>T	NP_001341853.1:p.Leu248=
NM_001354925.1:c.681G>T	NP_001341854.1:p.Leu227=
NR_149068.1:n.928G>T
XM_011543379.2:c.615G>T	XP_011541681.1:p.Leu205=
NM_002198.3:c.867G>T MANE Select	NP_002189.1:p.Leu289=