Canonical Allele Identifier: CA360813870

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819686G>T (hg19) ; chr5:g.132483994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483994G>T , CM000667.2:g.132483994G>T	GRCh38
NC_000005.9:g.131819686G>T , CM000667.1:g.131819686G>T	GRCh37
NC_000005.8:g.131847585G>T	NCBI36
NG_011450.1:g.11780C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.935C>A MANE Select	ENSP00000245414.4:p.Pro312Gln
ENST00000638452.2:c.-169+34305G>T	ENSP00000492349.2:n.-169+34305G>T
ENST00000638504.1:n.206+64054G>T
ENST00000638568.2:c.-311+34305G>T	ENSP00000491158.2:n.-311+34305G>T
ENST00000639899.1:n.289+34305G>T
ENST00000640655.2:c.-637-2198G>T	ENSP00000491596.2:n.-637-2198G>T
ENST00000679743.1:c.556C>A	ENSP00000505257.1:n.556C>A
ENST00000679786.1:n.130+2563C>A
ENST00000679860.1:c.223C>A
ENST00000679921.1:c.292+2563C>A	ENSP00000505766.1:n.292+2563C>A
ENST00000679945.1:n.130+2563C>A
ENST00000679964.1:n.50+1673C>A
ENST00000680139.1:c.749C>A	ENSP00000506148.1:p.Pro250Gln
ENST00000680380.1:n.136+368C>A
ENST00000680562.1:c.383C>A	ENSP00000505853.1:p.Pro128Gln
ENST00000680594.1:n.136+368C>A
ENST00000680903.1:c.812C>A	ENSP00000505720.1:p.Pro271Gln
ENST00000681049.1:n.50+1673C>A
ENST00000681240.1:c.185C>A	ENSP00000506034.1:p.Pro62Gln
ENST00000681336.1:c.182C>A	ENSP00000505242.1:p.Pro61Gln
ENST00000681462.1:c.772C>A
ENST00000681595.1:c.496C>A	ENSP00000506023.1:n.496C>A
ENST00000681634.1:n.136+368C>A
ENST00000681694.1:c.247C>A	ENSP00000506552.1:n.247C>A
ENST00000681715.1:c.433C>A	ENSP00000506545.1:n.433C>A
ENST00000245414.8:c.935C>A	ENSP00000245414.4:p.Pro312Gln
ENST00000405885.6:c.935C>A	ENSP00000384406.1:p.Pro312Gln
ENST00000472045.1:n.4244C>A
NM_002198.2:c.935C>A	NP_002189.1:p.Pro312Gln
XM_011543378.1:c.812C>A	XP_011541680.1:p.Pro271Gln
XM_011543379.1:c.683C>A	XP_011541681.1:p.Pro228Gln
XR_427711.2:n.996C>A
NM_001354924.1:c.812C>A	NP_001341853.1:p.Pro271Gln
NM_001354925.1:c.749C>A	NP_001341854.1:p.Pro250Gln
NR_149068.1:n.996C>A
XM_011543379.2:c.683C>A	XP_011541681.1:p.Pro228Gln
NM_002198.3:c.935C>A MANE Select	NP_002189.1:p.Pro312Gln