Canonical Allele Identifier: CA360813944

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819720T>G (hg19) ; chr5:g.132484028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484028T>G , CM000667.2:g.132484028T>G	GRCh38
NC_000005.9:g.131819720T>G , CM000667.1:g.131819720T>G	GRCh37
NC_000005.8:g.131847619T>G	NCBI36
NG_011450.1:g.11746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.901A>C MANE Select	ENSP00000245414.4:p.Met301Leu
ENST00000638452.2:c.-169+34339T>G	ENSP00000492349.2:n.-169+34339T>G
ENST00000638504.1:n.206+64088T>G
ENST00000638568.2:c.-311+34339T>G	ENSP00000491158.2:n.-311+34339T>G
ENST00000639899.1:n.289+34339T>G
ENST00000640655.2:c.-637-2164T>G	ENSP00000491596.2:n.-637-2164T>G
ENST00000679743.1:c.522A>C	ENSP00000505257.1:n.522A>C
ENST00000679786.1:n.130+2529A>C
ENST00000679860.1:c.189A>C
ENST00000679921.1:c.292+2529A>C	ENSP00000505766.1:n.292+2529A>C
ENST00000679945.1:n.130+2529A>C
ENST00000679964.1:n.50+1639A>C
ENST00000680139.1:c.715A>C	ENSP00000506148.1:p.Met239Leu
ENST00000680380.1:n.136+334A>C
ENST00000680562.1:c.349A>C	ENSP00000505853.1:p.Met117Leu
ENST00000680594.1:n.136+334A>C
ENST00000680903.1:c.778A>C	ENSP00000505720.1:p.Met260Leu
ENST00000681049.1:n.50+1639A>C
ENST00000681240.1:c.151A>C	ENSP00000506034.1:p.Met51Leu
ENST00000681336.1:c.148A>C	ENSP00000505242.1:p.Met50Leu
ENST00000681462.1:c.738A>C
ENST00000681595.1:c.462A>C	ENSP00000506023.1:n.462A>C
ENST00000681634.1:n.136+334A>C
ENST00000681694.1:c.213A>C	ENSP00000506552.1:n.213A>C
ENST00000681715.1:c.399A>C	ENSP00000506545.1:n.399A>C
ENST00000245414.8:c.901A>C	ENSP00000245414.4:p.Met301Leu
ENST00000405885.6:c.901A>C	ENSP00000384406.1:p.Met301Leu
ENST00000472045.1:n.4210A>C
NM_002198.2:c.901A>C	NP_002189.1:p.Met301Leu
XM_011543378.1:c.778A>C	XP_011541680.1:p.Met260Leu
XM_011543379.1:c.649A>C	XP_011541681.1:p.Met217Leu
XR_427711.2:n.962A>C
NM_001354924.1:c.778A>C	NP_001341853.1:p.Met260Leu
NM_001354925.1:c.715A>C	NP_001341854.1:p.Met239Leu
NR_149068.1:n.962A>C
XM_011543379.2:c.649A>C	XP_011541681.1:p.Met217Leu
NM_002198.3:c.901A>C MANE Select	NP_002189.1:p.Met301Leu