Canonical Allele Identifier: CA446358564

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819712G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484020G>C , CM000667.2:g.132484020G>C	GRCh38
NC_000005.9:g.131819712G>C , CM000667.1:g.131819712G>C	GRCh37
NC_000005.8:g.131847611G>C	NCBI36
NG_011450.1:g.11754C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.909C>G MANE Select	ENSP00000245414.4:p.Ala303=
ENST00000638452.2:c.-169+34331G>C	ENSP00000492349.2:n.-169+34331G>C
ENST00000638504.1:n.206+64080G>C
ENST00000638568.2:c.-311+34331G>C	ENSP00000491158.2:n.-311+34331G>C
ENST00000639899.1:n.289+34331G>C
ENST00000640655.2:c.-637-2172G>C	ENSP00000491596.2:n.-637-2172G>C
ENST00000679743.1:c.530C>G	ENSP00000505257.1:n.530C>G
ENST00000679786.1:n.130+2537C>G
ENST00000679860.1:c.197C>G
ENST00000679921.1:c.292+2537C>G	ENSP00000505766.1:n.292+2537C>G
ENST00000679945.1:n.130+2537C>G
ENST00000679964.1:n.50+1647C>G
ENST00000680139.1:c.723C>G	ENSP00000506148.1:p.Ala241=
ENST00000680380.1:n.136+342C>G
ENST00000680562.1:c.357C>G	ENSP00000505853.1:p.Ala119=
ENST00000680594.1:n.136+342C>G
ENST00000680903.1:c.786C>G	ENSP00000505720.1:p.Ala262=
ENST00000681049.1:n.50+1647C>G
ENST00000681240.1:c.159C>G	ENSP00000506034.1:p.Ala53=
ENST00000681336.1:c.156C>G	ENSP00000505242.1:p.Ala52=
ENST00000681462.1:c.746C>G
ENST00000681595.1:c.470C>G	ENSP00000506023.1:n.470C>G
ENST00000681634.1:n.136+342C>G
ENST00000681694.1:c.221C>G	ENSP00000506552.1:n.221C>G
ENST00000681715.1:c.407C>G	ENSP00000506545.1:n.407C>G
ENST00000245414.8:c.909C>G	ENSP00000245414.4:p.Ala303=
ENST00000405885.6:c.909C>G	ENSP00000384406.1:p.Ala303=
ENST00000472045.1:n.4218C>G
NM_002198.2:c.909C>G	NP_002189.1:p.Ala303=
XM_011543378.1:c.786C>G	XP_011541680.1:p.Ala262=
XM_011543379.1:c.657C>G	XP_011541681.1:p.Ala219=
XR_427711.2:n.970C>G
NM_001354924.1:c.786C>G	NP_001341853.1:p.Ala262=
NM_001354925.1:c.723C>G	NP_001341854.1:p.Ala241=
NR_149068.1:n.970C>G
XM_011543379.2:c.657C>G	XP_011541681.1:p.Ala219=
NM_002198.3:c.909C>G MANE Select	NP_002189.1:p.Ala303=