Canonical Allele Identifier: CA360813856

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819677A>G (hg19) ; chr5:g.132483985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483985A>G , CM000667.2:g.132483985A>G	GRCh38
NC_000005.9:g.131819677A>G , CM000667.1:g.131819677A>G	GRCh37
NC_000005.8:g.131847576A>G	NCBI36
NG_011450.1:g.11789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.944T>C MANE Select	ENSP00000245414.4:p.Leu315Ser
ENST00000638452.2:c.-169+34296A>G	ENSP00000492349.2:n.-169+34296A>G
ENST00000638504.1:n.206+64045A>G
ENST00000638568.2:c.-311+34296A>G	ENSP00000491158.2:n.-311+34296A>G
ENST00000639899.1:n.289+34296A>G
ENST00000640655.2:c.-637-2207A>G	ENSP00000491596.2:n.-637-2207A>G
ENST00000679743.1:c.565T>C	ENSP00000505257.1:n.565T>C
ENST00000679786.1:n.130+2572T>C
ENST00000679860.1:c.232T>C
ENST00000679921.1:c.292+2572T>C	ENSP00000505766.1:n.292+2572T>C
ENST00000679945.1:n.130+2572T>C
ENST00000679964.1:n.50+1682T>C
ENST00000680139.1:c.758T>C	ENSP00000506148.1:p.Leu253Ser
ENST00000680380.1:n.136+377T>C
ENST00000680562.1:c.392T>C	ENSP00000505853.1:p.Leu131Ser
ENST00000680594.1:n.136+377T>C
ENST00000680903.1:c.821T>C	ENSP00000505720.1:p.Leu274Ser
ENST00000681049.1:n.50+1682T>C
ENST00000681240.1:c.194T>C	ENSP00000506034.1:p.Leu65Ser
ENST00000681336.1:c.191T>C	ENSP00000505242.1:p.Leu64Ser
ENST00000681462.1:c.781T>C
ENST00000681595.1:c.505T>C	ENSP00000506023.1:n.505T>C
ENST00000681634.1:n.136+377T>C
ENST00000681694.1:c.256T>C	ENSP00000506552.1:n.256T>C
ENST00000681715.1:c.442T>C	ENSP00000506545.1:n.442T>C
ENST00000245414.8:c.944T>C	ENSP00000245414.4:p.Leu315Ser
ENST00000405885.6:c.944T>C	ENSP00000384406.1:p.Leu315Ser
ENST00000472045.1:n.4253T>C
NM_002198.2:c.944T>C	NP_002189.1:p.Leu315Ser
XM_011543378.1:c.821T>C	XP_011541680.1:p.Leu274Ser
XM_011543379.1:c.692T>C	XP_011541681.1:p.Leu231Ser
XR_427711.2:n.1005T>C
NM_001354924.1:c.821T>C	NP_001341853.1:p.Leu274Ser
NM_001354925.1:c.758T>C	NP_001341854.1:p.Leu253Ser
NR_149068.1:n.1005T>C
XM_011543379.2:c.692T>C	XP_011541681.1:p.Leu231Ser
NM_002198.3:c.944T>C MANE Select	NP_002189.1:p.Leu315Ser