Canonical Allele Identifier: CA360813784

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819643C>G (hg19) ; chr5:g.132483951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483951C>G , CM000667.2:g.132483951C>G	GRCh38
NC_000005.9:g.131819643C>G , CM000667.1:g.131819643C>G	GRCh37
NC_000005.8:g.131847542C>G	NCBI36
NG_011450.1:g.11823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.978G>C MANE Select	ENSP00000245414.4:p.Ter326Tyr
ENST00000638452.2:c.-169+34262C>G	ENSP00000492349.2:n.-169+34262C>G
ENST00000638504.1:n.206+64011C>G
ENST00000638568.2:c.-311+34262C>G	ENSP00000491158.2:n.-311+34262C>G
ENST00000639899.1:n.289+34262C>G
ENST00000640655.2:c.-637-2241C>G	ENSP00000491596.2:n.-637-2241C>G
ENST00000679743.1:c.599G>C	ENSP00000505257.1:n.599G>C
ENST00000679786.1:n.130+2606G>C
ENST00000679921.1:c.292+2606G>C	ENSP00000505766.1:n.292+2606G>C
ENST00000679945.1:n.130+2606G>C
ENST00000679964.1:n.50+1716G>C
ENST00000680139.1:c.792G>C	ENSP00000506148.1:p.Ter264Tyr
ENST00000680380.1:n.136+411G>C
ENST00000680562.1:c.426G>C	ENSP00000505853.1:p.Ter142Tyr
ENST00000680594.1:n.136+411G>C
ENST00000680903.1:c.855G>C	ENSP00000505720.1:p.Ter285Tyr
ENST00000681049.1:n.50+1716G>C
ENST00000681240.1:c.228G>C	ENSP00000506034.1:p.Ter76Tyr
ENST00000681336.1:c.225G>C	ENSP00000505242.1:p.Ter75Tyr
ENST00000681595.1:c.539G>C	ENSP00000506023.1:n.539G>C
ENST00000681634.1:n.136+411G>C
ENST00000681694.1:c.290G>C	ENSP00000506552.1:n.290G>C
ENST00000681715.1:c.476G>C	ENSP00000506545.1:n.476G>C
ENST00000245414.8:c.978G>C	ENSP00000245414.4:p.Ter326Tyr
ENST00000405885.6:c.978G>C	ENSP00000384406.1:p.Ter326Tyr
ENST00000472045.1:n.4287G>C
NM_002198.2:c.978G>C	NP_002189.1:p.Ter326Tyr
XM_011543378.1:c.855G>C	XP_011541680.1:p.Ter285Tyr
XM_011543379.1:c.726G>C	XP_011541681.1:p.Ter242Tyr
XR_427711.2:n.1039G>C
NM_001354924.1:c.855G>C	NP_001341853.1:p.Ter285Tyr
NM_001354925.1:c.792G>C	NP_001341854.1:p.Ter264Tyr
NR_149068.1:n.1039G>C
XM_011543379.2:c.726G>C	XP_011541681.1:p.Ter242Tyr
NM_002198.3:c.978G>C MANE Select	NP_002189.1:p.Ter326Tyr