Canonical Allele Identifier: CA446358612

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819748T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484056T>G , CM000667.2:g.132484056T>G	GRCh38
NC_000005.9:g.131819748T>G , CM000667.1:g.131819748T>G	GRCh37
NC_000005.8:g.131847647T>G	NCBI36
NG_011450.1:g.11718A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.873A>C MANE Select	ENSP00000245414.4:p.Leu291=
ENST00000613424.5:c.*94A>C	ENSP00000480887.1:n.*94A>C
ENST00000638452.2:c.-169+34367T>G	ENSP00000492349.2:n.-169+34367T>G
ENST00000638504.1:n.206+64116T>G
ENST00000638568.2:c.-311+34367T>G	ENSP00000491158.2:n.-311+34367T>G
ENST00000639899.1:n.289+34367T>G
ENST00000640655.2:c.-637-2136T>G	ENSP00000491596.2:n.-637-2136T>G
ENST00000679743.1:c.494A>C	ENSP00000505257.1:n.494A>C
ENST00000679786.1:n.130+2501A>C
ENST00000679860.1:c.161A>C
ENST00000679921.1:c.292+2501A>C	ENSP00000505766.1:n.292+2501A>C
ENST00000679945.1:n.130+2501A>C
ENST00000679964.1:n.50+1611A>C
ENST00000680139.1:c.687A>C	ENSP00000506148.1:p.Leu229=
ENST00000680380.1:n.136+306A>C
ENST00000680562.1:c.321A>C	ENSP00000505853.1:p.Leu107=
ENST00000680594.1:n.136+306A>C
ENST00000680903.1:c.750A>C	ENSP00000505720.1:p.Leu250=
ENST00000681049.1:n.50+1611A>C
ENST00000681240.1:c.123A>C	ENSP00000506034.1:p.Leu41=
ENST00000681336.1:c.137-17A>C	ENSP00000505242.1:n.137-17A>C
ENST00000681462.1:c.710A>C
ENST00000681595.1:c.434A>C	ENSP00000506023.1:n.434A>C
ENST00000681634.1:n.136+306A>C
ENST00000681694.1:c.185A>C	ENSP00000506552.1:n.185A>C
ENST00000681715.1:c.371A>C	ENSP00000506545.1:n.371A>C
ENST00000245414.8:c.873A>C	ENSP00000245414.4:p.Leu291=
ENST00000405885.6:c.873A>C	ENSP00000384406.1:p.Leu291=
ENST00000472045.1:n.4182A>C
ENST00000613424.4:c.*94A>C	ENSP00000480887.1:n.*94A>C
NM_002198.2:c.873A>C	NP_002189.1:p.Leu291=
XM_011543378.1:c.750A>C	XP_011541680.1:p.Leu250=
XM_011543379.1:c.621A>C	XP_011541681.1:p.Leu207=
XR_427711.2:n.934A>C
NM_001354924.1:c.750A>C	NP_001341853.1:p.Leu250=
NM_001354925.1:c.687A>C	NP_001341854.1:p.Leu229=
NR_149068.1:n.934A>C
XM_011543379.2:c.621A>C	XP_011541681.1:p.Leu207=
NM_002198.3:c.873A>C MANE Select	NP_002189.1:p.Leu291=