Canonical Allele Identifier: CA446358344

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819696G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484004G>A , CM000667.2:g.132484004G>A	GRCh38
NC_000005.9:g.131819696G>A , CM000667.1:g.131819696G>A	GRCh37
NC_000005.8:g.131847595G>A	NCBI36
NG_011450.1:g.11770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.925C>T MANE Select	ENSP00000245414.4:p.Leu309=
ENST00000638452.2:c.-169+34315G>A	ENSP00000492349.2:n.-169+34315G>A
ENST00000638504.1:n.206+64064G>A
ENST00000638568.2:c.-311+34315G>A	ENSP00000491158.2:n.-311+34315G>A
ENST00000639899.1:n.289+34315G>A
ENST00000640655.2:c.-637-2188G>A	ENSP00000491596.2:n.-637-2188G>A
ENST00000679743.1:c.546C>T	ENSP00000505257.1:n.546C>T
ENST00000679786.1:n.130+2553C>T
ENST00000679860.1:c.213C>T
ENST00000679921.1:c.292+2553C>T	ENSP00000505766.1:n.292+2553C>T
ENST00000679945.1:n.130+2553C>T
ENST00000679964.1:n.50+1663C>T
ENST00000680139.1:c.739C>T	ENSP00000506148.1:p.Leu247=
ENST00000680380.1:n.136+358C>T
ENST00000680562.1:c.373C>T	ENSP00000505853.1:p.Leu125=
ENST00000680594.1:n.136+358C>T
ENST00000680903.1:c.802C>T	ENSP00000505720.1:p.Leu268=
ENST00000681049.1:n.50+1663C>T
ENST00000681240.1:c.175C>T	ENSP00000506034.1:p.Leu59=
ENST00000681336.1:c.172C>T	ENSP00000505242.1:p.Leu58=
ENST00000681462.1:c.762C>T
ENST00000681595.1:c.486C>T	ENSP00000506023.1:n.486C>T
ENST00000681634.1:n.136+358C>T
ENST00000681694.1:c.237C>T	ENSP00000506552.1:n.237C>T
ENST00000681715.1:c.423C>T	ENSP00000506545.1:n.423C>T
ENST00000245414.8:c.925C>T	ENSP00000245414.4:p.Leu309=
ENST00000405885.6:c.925C>T	ENSP00000384406.1:p.Leu309=
ENST00000472045.1:n.4234C>T
NM_002198.2:c.925C>T	NP_002189.1:p.Leu309=
XM_011543378.1:c.802C>T	XP_011541680.1:p.Leu268=
XM_011543379.1:c.673C>T	XP_011541681.1:p.Leu225=
XR_427711.2:n.986C>T
NM_001354924.1:c.802C>T	NP_001341853.1:p.Leu268=
NM_001354925.1:c.739C>T	NP_001341854.1:p.Leu247=
NR_149068.1:n.986C>T
XM_011543379.2:c.673C>T	XP_011541681.1:p.Leu225=
NM_002198.3:c.925C>T MANE Select	NP_002189.1:p.Leu309=