Canonical Allele Identifier: CA360813987

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819738A>G (hg19) ; chr5:g.132484046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484046A>G , CM000667.2:g.132484046A>G	GRCh38
NC_000005.9:g.131819738A>G , CM000667.1:g.131819738A>G	GRCh37
NC_000005.8:g.131847637A>G	NCBI36
NG_011450.1:g.11728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.883T>C MANE Select	ENSP00000245414.4:p.Phe295Leu
ENST00000638452.2:c.-169+34357A>G	ENSP00000492349.2:n.-169+34357A>G
ENST00000638504.1:n.206+64106A>G
ENST00000638568.2:c.-311+34357A>G	ENSP00000491158.2:n.-311+34357A>G
ENST00000639899.1:n.289+34357A>G
ENST00000640655.2:c.-637-2146A>G	ENSP00000491596.2:n.-637-2146A>G
ENST00000679743.1:c.504T>C	ENSP00000505257.1:n.504T>C
ENST00000679786.1:n.130+2511T>C
ENST00000679860.1:c.171T>C
ENST00000679921.1:c.292+2511T>C	ENSP00000505766.1:n.292+2511T>C
ENST00000679945.1:n.130+2511T>C
ENST00000679964.1:n.50+1621T>C
ENST00000680139.1:c.697T>C	ENSP00000506148.1:p.Phe233Leu
ENST00000680380.1:n.136+316T>C
ENST00000680562.1:c.331T>C	ENSP00000505853.1:p.Phe111Leu
ENST00000680594.1:n.136+316T>C
ENST00000680903.1:c.760T>C	ENSP00000505720.1:p.Phe254Leu
ENST00000681049.1:n.50+1621T>C
ENST00000681240.1:c.133T>C	ENSP00000506034.1:p.Phe45Leu
ENST00000681336.1:c.137-7T>C	ENSP00000505242.1:n.137-7T>C
ENST00000681462.1:c.720T>C
ENST00000681595.1:c.444T>C	ENSP00000506023.1:n.444T>C
ENST00000681634.1:n.136+316T>C
ENST00000681694.1:c.195T>C	ENSP00000506552.1:n.195T>C
ENST00000681715.1:c.381T>C	ENSP00000506545.1:n.381T>C
ENST00000245414.8:c.883T>C	ENSP00000245414.4:p.Phe295Leu
ENST00000405885.6:c.883T>C	ENSP00000384406.1:p.Phe295Leu
ENST00000472045.1:n.4192T>C
NM_002198.2:c.883T>C	NP_002189.1:p.Phe295Leu
XM_011543378.1:c.760T>C	XP_011541680.1:p.Phe254Leu
XM_011543379.1:c.631T>C	XP_011541681.1:p.Phe211Leu
XR_427711.2:n.944T>C
NM_001354924.1:c.760T>C	NP_001341853.1:p.Phe254Leu
NM_001354925.1:c.697T>C	NP_001341854.1:p.Phe233Leu
NR_149068.1:n.944T>C
XM_011543379.2:c.631T>C	XP_011541681.1:p.Phe211Leu
NM_002198.3:c.883T>C MANE Select	NP_002189.1:p.Phe295Leu