Canonical Allele Identifier: CA360814019

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819755A>C (hg19) ; chr5:g.132484063A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484063A>C , CM000667.2:g.132484063A>C	GRCh38
NC_000005.9:g.131819755A>C , CM000667.1:g.131819755A>C	GRCh37
NC_000005.8:g.131847654A>C	NCBI36
NG_011450.1:g.11711T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.866T>G MANE Select	ENSP00000245414.4:p.Leu289Arg
ENST00000613424.5:c.*87T>G	ENSP00000480887.1:n.*87T>G
ENST00000638452.2:c.-169+34374A>C	ENSP00000492349.2:n.-169+34374A>C
ENST00000638504.1:n.206+64123A>C
ENST00000638568.2:c.-311+34374A>C	ENSP00000491158.2:n.-311+34374A>C
ENST00000639899.1:n.289+34374A>C
ENST00000640655.2:c.-637-2129A>C	ENSP00000491596.2:n.-637-2129A>C
ENST00000679743.1:c.487T>G	ENSP00000505257.1:n.487T>G
ENST00000679786.1:n.130+2494T>G
ENST00000679860.1:c.154T>G
ENST00000679921.1:c.292+2494T>G	ENSP00000505766.1:n.292+2494T>G
ENST00000679945.1:n.130+2494T>G
ENST00000679964.1:n.50+1604T>G
ENST00000680139.1:c.680T>G	ENSP00000506148.1:p.Leu227Arg
ENST00000680380.1:n.136+299T>G
ENST00000680562.1:c.314T>G	ENSP00000505853.1:p.Leu105Arg
ENST00000680594.1:n.136+299T>G
ENST00000680903.1:c.743T>G	ENSP00000505720.1:p.Leu248Arg
ENST00000681049.1:n.50+1604T>G
ENST00000681240.1:c.116T>G	ENSP00000506034.1:p.Leu39Arg
ENST00000681336.1:c.137-24T>G	ENSP00000505242.1:n.137-24T>G
ENST00000681462.1:c.703T>G
ENST00000681595.1:c.427T>G	ENSP00000506023.1:n.427T>G
ENST00000681634.1:n.136+299T>G
ENST00000681694.1:c.178T>G	ENSP00000506552.1:p.Ter60Gly
ENST00000681715.1:c.364T>G	ENSP00000506545.1:n.364T>G
ENST00000245414.8:c.866T>G	ENSP00000245414.4:p.Leu289Arg
ENST00000405885.6:c.866T>G	ENSP00000384406.1:p.Leu289Arg
ENST00000472045.1:n.4175T>G
ENST00000613424.4:c.*87T>G	ENSP00000480887.1:n.*87T>G
NM_002198.2:c.866T>G	NP_002189.1:p.Leu289Arg
XM_011543378.1:c.743T>G	XP_011541680.1:p.Leu248Arg
XM_011543379.1:c.614T>G	XP_011541681.1:p.Leu205Arg
XR_427711.2:n.927T>G
NM_001354924.1:c.743T>G	NP_001341853.1:p.Leu248Arg
NM_001354925.1:c.680T>G	NP_001341854.1:p.Leu227Arg
NR_149068.1:n.927T>G
XM_011543379.2:c.614T>G	XP_011541681.1:p.Leu205Arg
NM_002198.3:c.866T>G MANE Select	NP_002189.1:p.Leu289Arg