Canonical Allele Identifier: CA360814005

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819747G>C (hg19) ; chr5:g.132484055G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484055G>C , CM000667.2:g.132484055G>C	GRCh38
NC_000005.9:g.131819747G>C , CM000667.1:g.131819747G>C	GRCh37
NC_000005.8:g.131847646G>C	NCBI36
NG_011450.1:g.11719C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.874C>G MANE Select	ENSP00000245414.4:p.Gln292Glu
ENST00000613424.5:c.*95C>G	ENSP00000480887.1:n.*95C>G
ENST00000638452.2:c.-169+34366G>C	ENSP00000492349.2:n.-169+34366G>C
ENST00000638504.1:n.206+64115G>C
ENST00000638568.2:c.-311+34366G>C	ENSP00000491158.2:n.-311+34366G>C
ENST00000639899.1:n.289+34366G>C
ENST00000640655.2:c.-637-2137G>C	ENSP00000491596.2:n.-637-2137G>C
ENST00000679743.1:c.495C>G	ENSP00000505257.1:n.495C>G
ENST00000679786.1:n.130+2502C>G
ENST00000679860.1:c.162C>G
ENST00000679921.1:c.292+2502C>G	ENSP00000505766.1:n.292+2502C>G
ENST00000679945.1:n.130+2502C>G
ENST00000679964.1:n.50+1612C>G
ENST00000680139.1:c.688C>G	ENSP00000506148.1:p.Gln230Glu
ENST00000680380.1:n.136+307C>G
ENST00000680562.1:c.322C>G	ENSP00000505853.1:p.Gln108Glu
ENST00000680594.1:n.136+307C>G
ENST00000680903.1:c.751C>G	ENSP00000505720.1:p.Gln251Glu
ENST00000681049.1:n.50+1612C>G
ENST00000681240.1:c.124C>G	ENSP00000506034.1:p.Gln42Glu
ENST00000681336.1:c.137-16C>G	ENSP00000505242.1:n.137-16C>G
ENST00000681462.1:c.711C>G
ENST00000681595.1:c.435C>G	ENSP00000506023.1:n.435C>G
ENST00000681634.1:n.136+307C>G
ENST00000681694.1:c.186C>G	ENSP00000506552.1:n.186C>G
ENST00000681715.1:c.372C>G	ENSP00000506545.1:n.372C>G
ENST00000245414.8:c.874C>G	ENSP00000245414.4:p.Gln292Glu
ENST00000405885.6:c.874C>G	ENSP00000384406.1:p.Gln292Glu
ENST00000472045.1:n.4183C>G
ENST00000613424.4:c.*95C>G	ENSP00000480887.1:n.*95C>G
NM_002198.2:c.874C>G	NP_002189.1:p.Gln292Glu
XM_011543378.1:c.751C>G	XP_011541680.1:p.Gln251Glu
XM_011543379.1:c.622C>G	XP_011541681.1:p.Gln208Glu
XR_427711.2:n.935C>G
NM_001354924.1:c.751C>G	NP_001341853.1:p.Gln251Glu
NM_001354925.1:c.688C>G	NP_001341854.1:p.Gln230Glu
NR_149068.1:n.935C>G
XM_011543379.2:c.622C>G	XP_011541681.1:p.Gln208Glu
NM_002198.3:c.874C>G MANE Select	NP_002189.1:p.Gln292Glu