Canonical Allele Identifier: CA360813792

Gene: IRF1

Linked Data

• gnomAD v4: 5-132483955-G-T
• MyVariant Identifiers: chr5:g.131819647G>T (hg19) ; chr5:g.132483955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483955G>T , CM000667.2:g.132483955G>T	GRCh38
NC_000005.9:g.131819647G>T , CM000667.1:g.131819647G>T	GRCh37
NC_000005.8:g.131847546G>T	NCBI36
NG_011450.1:g.11819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.974C>A MANE Select	ENSP00000245414.4:p.Pro325Gln
ENST00000638452.2:c.-169+34266G>T	ENSP00000492349.2:n.-169+34266G>T
ENST00000638504.1:n.206+64015G>T
ENST00000638568.2:c.-311+34266G>T	ENSP00000491158.2:n.-311+34266G>T
ENST00000639899.1:n.289+34266G>T
ENST00000640655.2:c.-637-2237G>T	ENSP00000491596.2:n.-637-2237G>T
ENST00000679743.1:c.595C>A	ENSP00000505257.1:n.595C>A
ENST00000679786.1:n.130+2602C>A
ENST00000679921.1:c.292+2602C>A	ENSP00000505766.1:n.292+2602C>A
ENST00000679945.1:n.130+2602C>A
ENST00000679964.1:n.50+1712C>A
ENST00000680139.1:c.788C>A	ENSP00000506148.1:p.Pro263Gln
ENST00000680380.1:n.136+407C>A
ENST00000680562.1:c.422C>A	ENSP00000505853.1:p.Pro141Gln
ENST00000680594.1:n.136+407C>A
ENST00000680903.1:c.851C>A	ENSP00000505720.1:p.Pro284Gln
ENST00000681049.1:n.50+1712C>A
ENST00000681240.1:c.224C>A	ENSP00000506034.1:p.Pro75Gln
ENST00000681336.1:c.221C>A	ENSP00000505242.1:p.Pro74Gln
ENST00000681595.1:c.535C>A	ENSP00000506023.1:n.535C>A
ENST00000681634.1:n.136+407C>A
ENST00000681694.1:c.286C>A	ENSP00000506552.1:n.286C>A
ENST00000681715.1:c.472C>A	ENSP00000506545.1:n.472C>A
ENST00000245414.8:c.974C>A	ENSP00000245414.4:p.Pro325Gln
ENST00000405885.6:c.974C>A	ENSP00000384406.1:p.Pro325Gln
ENST00000472045.1:n.4283C>A
NM_002198.2:c.974C>A	NP_002189.1:p.Pro325Gln
XM_011543378.1:c.851C>A	XP_011541680.1:p.Pro284Gln
XM_011543379.1:c.722C>A	XP_011541681.1:p.Pro241Gln
XR_427711.2:n.1035C>A
NM_001354924.1:c.851C>A	NP_001341853.1:p.Pro284Gln
NM_001354925.1:c.788C>A	NP_001341854.1:p.Pro263Gln
NR_149068.1:n.1035C>A
XM_011543379.2:c.722C>A	XP_011541681.1:p.Pro241Gln
NM_002198.3:c.974C>A MANE Select	NP_002189.1:p.Pro325Gln