Canonical Allele Identifier: CA360813809

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819656G>A (hg19) ; chr5:g.132483964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483964G>A , CM000667.2:g.132483964G>A	GRCh38
NC_000005.9:g.131819656G>A , CM000667.1:g.131819656G>A	GRCh37
NC_000005.8:g.131847555G>A	NCBI36
NG_011450.1:g.11810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.965C>T MANE Select	ENSP00000245414.4:p.Pro322Leu
ENST00000638452.2:c.-169+34275G>A	ENSP00000492349.2:n.-169+34275G>A
ENST00000638504.1:n.206+64024G>A
ENST00000638568.2:c.-311+34275G>A	ENSP00000491158.2:n.-311+34275G>A
ENST00000639899.1:n.289+34275G>A
ENST00000640655.2:c.-637-2228G>A	ENSP00000491596.2:n.-637-2228G>A
ENST00000679743.1:c.586C>T	ENSP00000505257.1:n.586C>T
ENST00000679786.1:n.130+2593C>T
ENST00000679921.1:c.292+2593C>T	ENSP00000505766.1:n.292+2593C>T
ENST00000679945.1:n.130+2593C>T
ENST00000679964.1:n.50+1703C>T
ENST00000680139.1:c.779C>T	ENSP00000506148.1:p.Pro260Leu
ENST00000680380.1:n.136+398C>T
ENST00000680562.1:c.413C>T	ENSP00000505853.1:p.Pro138Leu
ENST00000680594.1:n.136+398C>T
ENST00000680903.1:c.842C>T	ENSP00000505720.1:p.Pro281Leu
ENST00000681049.1:n.50+1703C>T
ENST00000681240.1:c.215C>T	ENSP00000506034.1:p.Pro72Leu
ENST00000681336.1:c.212C>T	ENSP00000505242.1:p.Pro71Leu
ENST00000681595.1:c.526C>T	ENSP00000506023.1:n.526C>T
ENST00000681634.1:n.136+398C>T
ENST00000681694.1:c.277C>T	ENSP00000506552.1:n.277C>T
ENST00000681715.1:c.463C>T	ENSP00000506545.1:n.463C>T
ENST00000245414.8:c.965C>T	ENSP00000245414.4:p.Pro322Leu
ENST00000405885.6:c.965C>T	ENSP00000384406.1:p.Pro322Leu
ENST00000472045.1:n.4274C>T
NM_002198.2:c.965C>T	NP_002189.1:p.Pro322Leu
XM_011543378.1:c.842C>T	XP_011541680.1:p.Pro281Leu
XM_011543379.1:c.713C>T	XP_011541681.1:p.Pro238Leu
XR_427711.2:n.1026C>T
NM_001354924.1:c.842C>T	NP_001341853.1:p.Pro281Leu
NM_001354925.1:c.779C>T	NP_001341854.1:p.Pro260Leu
NR_149068.1:n.1026C>T
XM_011543379.2:c.713C>T	XP_011541681.1:p.Pro238Leu
NM_002198.3:c.965C>T MANE Select	NP_002189.1:p.Pro322Leu