Canonical Allele Identifier: CA360813860

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819680C>A (hg19) ; chr5:g.132483988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483988C>A , CM000667.2:g.132483988C>A	GRCh38
NC_000005.9:g.131819680C>A , CM000667.1:g.131819680C>A	GRCh37
NC_000005.8:g.131847579C>A	NCBI36
NG_011450.1:g.11786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.941G>T MANE Select	ENSP00000245414.4:p.Arg314Leu
ENST00000638452.2:c.-169+34299C>A	ENSP00000492349.2:n.-169+34299C>A
ENST00000638504.1:n.206+64048C>A
ENST00000638568.2:c.-311+34299C>A	ENSP00000491158.2:n.-311+34299C>A
ENST00000639899.1:n.289+34299C>A
ENST00000640655.2:c.-637-2204C>A	ENSP00000491596.2:n.-637-2204C>A
ENST00000679743.1:c.562G>T	ENSP00000505257.1:n.562G>T
ENST00000679786.1:n.130+2569G>T
ENST00000679860.1:c.229G>T
ENST00000679921.1:c.292+2569G>T	ENSP00000505766.1:n.292+2569G>T
ENST00000679945.1:n.130+2569G>T
ENST00000679964.1:n.50+1679G>T
ENST00000680139.1:c.755G>T	ENSP00000506148.1:p.Arg252Leu
ENST00000680380.1:n.136+374G>T
ENST00000680562.1:c.389G>T	ENSP00000505853.1:p.Arg130Leu
ENST00000680594.1:n.136+374G>T
ENST00000680903.1:c.818G>T	ENSP00000505720.1:p.Arg273Leu
ENST00000681049.1:n.50+1679G>T
ENST00000681240.1:c.191G>T	ENSP00000506034.1:p.Arg64Leu
ENST00000681336.1:c.188G>T	ENSP00000505242.1:p.Arg63Leu
ENST00000681462.1:c.778G>T
ENST00000681595.1:c.502G>T	ENSP00000506023.1:n.502G>T
ENST00000681634.1:n.136+374G>T
ENST00000681694.1:c.253G>T	ENSP00000506552.1:n.253G>T
ENST00000681715.1:c.439G>T	ENSP00000506545.1:n.439G>T
ENST00000245414.8:c.941G>T	ENSP00000245414.4:p.Arg314Leu
ENST00000405885.6:c.941G>T	ENSP00000384406.1:p.Arg314Leu
ENST00000472045.1:n.4250G>T
NM_002198.2:c.941G>T	NP_002189.1:p.Arg314Leu
XM_011543378.1:c.818G>T	XP_011541680.1:p.Arg273Leu
XM_011543379.1:c.689G>T	XP_011541681.1:p.Arg230Leu
XR_427711.2:n.1002G>T
NM_001354924.1:c.818G>T	NP_001341853.1:p.Arg273Leu
NM_001354925.1:c.755G>T	NP_001341854.1:p.Arg252Leu
NR_149068.1:n.1002G>T
XM_011543379.2:c.689G>T	XP_011541681.1:p.Arg230Leu
NM_002198.3:c.941G>T MANE Select	NP_002189.1:p.Arg314Leu