Canonical Allele Identifier: CA360813964

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819728A>G (hg19) ; chr5:g.132484036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484036A>G , CM000667.2:g.132484036A>G	GRCh38
NC_000005.9:g.131819728A>G , CM000667.1:g.131819728A>G	GRCh37
NC_000005.8:g.131847627A>G	NCBI36
NG_011450.1:g.11738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.893T>C MANE Select	ENSP00000245414.4:p.Leu298Pro
ENST00000638452.2:c.-169+34347A>G	ENSP00000492349.2:n.-169+34347A>G
ENST00000638504.1:n.206+64096A>G
ENST00000638568.2:c.-311+34347A>G	ENSP00000491158.2:n.-311+34347A>G
ENST00000639899.1:n.289+34347A>G
ENST00000640655.2:c.-637-2156A>G	ENSP00000491596.2:n.-637-2156A>G
ENST00000679743.1:c.514T>C	ENSP00000505257.1:n.514T>C
ENST00000679786.1:n.130+2521T>C
ENST00000679860.1:c.181T>C
ENST00000679921.1:c.292+2521T>C	ENSP00000505766.1:n.292+2521T>C
ENST00000679945.1:n.130+2521T>C
ENST00000679964.1:n.50+1631T>C
ENST00000680139.1:c.707T>C	ENSP00000506148.1:p.Leu236Pro
ENST00000680380.1:n.136+326T>C
ENST00000680562.1:c.341T>C	ENSP00000505853.1:p.Leu114Pro
ENST00000680594.1:n.136+326T>C
ENST00000680903.1:c.770T>C	ENSP00000505720.1:p.Leu257Pro
ENST00000681049.1:n.50+1631T>C
ENST00000681240.1:c.143T>C	ENSP00000506034.1:p.Leu48Pro
ENST00000681336.1:c.140T>C	ENSP00000505242.1:p.Leu47Pro
ENST00000681462.1:c.730T>C
ENST00000681595.1:c.454T>C	ENSP00000506023.1:n.454T>C
ENST00000681634.1:n.136+326T>C
ENST00000681694.1:c.205T>C	ENSP00000506552.1:n.205T>C
ENST00000681715.1:c.391T>C	ENSP00000506545.1:n.391T>C
ENST00000245414.8:c.893T>C	ENSP00000245414.4:p.Leu298Pro
ENST00000405885.6:c.893T>C	ENSP00000384406.1:p.Leu298Pro
ENST00000472045.1:n.4202T>C
NM_002198.2:c.893T>C	NP_002189.1:p.Leu298Pro
XM_011543378.1:c.770T>C	XP_011541680.1:p.Leu257Pro
XM_011543379.1:c.641T>C	XP_011541681.1:p.Leu214Pro
XR_427711.2:n.954T>C
NM_001354924.1:c.770T>C	NP_001341853.1:p.Leu257Pro
NM_001354925.1:c.707T>C	NP_001341854.1:p.Leu236Pro
NR_149068.1:n.954T>C
XM_011543379.2:c.641T>C	XP_011541681.1:p.Leu214Pro
NM_002198.3:c.893T>C MANE Select	NP_002189.1:p.Leu298Pro