Canonical Allele Identifier: CA360813978

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819735T>A (hg19) ; chr5:g.132484043T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484043T>A , CM000667.2:g.132484043T>A	GRCh38
NC_000005.9:g.131819735T>A , CM000667.1:g.131819735T>A	GRCh37
NC_000005.8:g.131847634T>A	NCBI36
NG_011450.1:g.11731A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.886A>T MANE Select	ENSP00000245414.4:p.Thr296Ser
ENST00000638452.2:c.-169+34354T>A	ENSP00000492349.2:n.-169+34354T>A
ENST00000638504.1:n.206+64103T>A
ENST00000638568.2:c.-311+34354T>A	ENSP00000491158.2:n.-311+34354T>A
ENST00000639899.1:n.289+34354T>A
ENST00000640655.2:c.-637-2149T>A	ENSP00000491596.2:n.-637-2149T>A
ENST00000679743.1:c.507A>T	ENSP00000505257.1:n.507A>T
ENST00000679786.1:n.130+2514A>T
ENST00000679860.1:c.174A>T
ENST00000679921.1:c.292+2514A>T	ENSP00000505766.1:n.292+2514A>T
ENST00000679945.1:n.130+2514A>T
ENST00000679964.1:n.50+1624A>T
ENST00000680139.1:c.700A>T	ENSP00000506148.1:p.Thr234Ser
ENST00000680380.1:n.136+319A>T
ENST00000680562.1:c.334A>T	ENSP00000505853.1:p.Thr112Ser
ENST00000680594.1:n.136+319A>T
ENST00000680903.1:c.763A>T	ENSP00000505720.1:p.Thr255Ser
ENST00000681049.1:n.50+1624A>T
ENST00000681240.1:c.136A>T	ENSP00000506034.1:p.Thr46Ser
ENST00000681336.1:c.137-4A>T	ENSP00000505242.1:n.137-4A>T
ENST00000681462.1:c.723A>T
ENST00000681595.1:c.447A>T	ENSP00000506023.1:n.447A>T
ENST00000681634.1:n.136+319A>T
ENST00000681694.1:c.198A>T	ENSP00000506552.1:n.198A>T
ENST00000681715.1:c.384A>T	ENSP00000506545.1:n.384A>T
ENST00000245414.8:c.886A>T	ENSP00000245414.4:p.Thr296Ser
ENST00000405885.6:c.886A>T	ENSP00000384406.1:p.Thr296Ser
ENST00000472045.1:n.4195A>T
NM_002198.2:c.886A>T	NP_002189.1:p.Thr296Ser
XM_011543378.1:c.763A>T	XP_011541680.1:p.Thr255Ser
XM_011543379.1:c.634A>T	XP_011541681.1:p.Thr212Ser
XR_427711.2:n.947A>T
NM_001354924.1:c.763A>T	NP_001341853.1:p.Thr255Ser
NM_001354925.1:c.700A>T	NP_001341854.1:p.Thr234Ser
NR_149068.1:n.947A>T
XM_011543379.2:c.634A>T	XP_011541681.1:p.Thr212Ser
NM_002198.3:c.886A>T MANE Select	NP_002189.1:p.Thr296Ser