Canonical Allele Identifier: CA360813836

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819668A>C (hg19) ; chr5:g.132483976A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483976A>C , CM000667.2:g.132483976A>C	GRCh38
NC_000005.9:g.131819668A>C , CM000667.1:g.131819668A>C	GRCh37
NC_000005.8:g.131847567A>C	NCBI36
NG_011450.1:g.11798T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.953T>G MANE Select	ENSP00000245414.4:p.Ile318Ser
ENST00000638452.2:c.-169+34287A>C	ENSP00000492349.2:n.-169+34287A>C
ENST00000638504.1:n.206+64036A>C
ENST00000638568.2:c.-311+34287A>C	ENSP00000491158.2:n.-311+34287A>C
ENST00000639899.1:n.289+34287A>C
ENST00000640655.2:c.-637-2216A>C	ENSP00000491596.2:n.-637-2216A>C
ENST00000679743.1:c.574T>G	ENSP00000505257.1:n.574T>G
ENST00000679786.1:n.130+2581T>G
ENST00000679921.1:c.292+2581T>G	ENSP00000505766.1:n.292+2581T>G
ENST00000679945.1:n.130+2581T>G
ENST00000679964.1:n.50+1691T>G
ENST00000680139.1:c.767T>G	ENSP00000506148.1:p.Ile256Ser
ENST00000680380.1:n.136+386T>G
ENST00000680562.1:c.401T>G	ENSP00000505853.1:p.Ile134Ser
ENST00000680594.1:n.136+386T>G
ENST00000680903.1:c.830T>G	ENSP00000505720.1:p.Ile277Ser
ENST00000681049.1:n.50+1691T>G
ENST00000681240.1:c.203T>G	ENSP00000506034.1:p.Ile68Ser
ENST00000681336.1:c.200T>G	ENSP00000505242.1:p.Ile67Ser
ENST00000681595.1:c.514T>G	ENSP00000506023.1:n.514T>G
ENST00000681634.1:n.136+386T>G
ENST00000681694.1:c.265T>G	ENSP00000506552.1:n.265T>G
ENST00000681715.1:c.451T>G	ENSP00000506545.1:n.451T>G
ENST00000245414.8:c.953T>G	ENSP00000245414.4:p.Ile318Ser
ENST00000405885.6:c.953T>G	ENSP00000384406.1:p.Ile318Ser
ENST00000472045.1:n.4262T>G
NM_002198.2:c.953T>G	NP_002189.1:p.Ile318Ser
XM_011543378.1:c.830T>G	XP_011541680.1:p.Ile277Ser
XM_011543379.1:c.701T>G	XP_011541681.1:p.Ile234Ser
XR_427711.2:n.1014T>G
NM_001354924.1:c.830T>G	NP_001341853.1:p.Ile277Ser
NM_001354925.1:c.767T>G	NP_001341854.1:p.Ile256Ser
NR_149068.1:n.1014T>G
XM_011543379.2:c.701T>G	XP_011541681.1:p.Ile234Ser
NM_002198.3:c.953T>G MANE Select	NP_002189.1:p.Ile318Ser