Canonical Allele Identifier: CA360813884

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819693G>T (hg19) ; chr5:g.132484001G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484001G>T , CM000667.2:g.132484001G>T	GRCh38
NC_000005.9:g.131819693G>T , CM000667.1:g.131819693G>T	GRCh37
NC_000005.8:g.131847592G>T	NCBI36
NG_011450.1:g.11773C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.928C>A MANE Select	ENSP00000245414.4:p.Leu310Met
ENST00000638452.2:c.-169+34312G>T	ENSP00000492349.2:n.-169+34312G>T
ENST00000638504.1:n.206+64061G>T
ENST00000638568.2:c.-311+34312G>T	ENSP00000491158.2:n.-311+34312G>T
ENST00000639899.1:n.289+34312G>T
ENST00000640655.2:c.-637-2191G>T	ENSP00000491596.2:n.-637-2191G>T
ENST00000679743.1:c.549C>A	ENSP00000505257.1:n.549C>A
ENST00000679786.1:n.130+2556C>A
ENST00000679860.1:c.216C>A
ENST00000679921.1:c.292+2556C>A	ENSP00000505766.1:n.292+2556C>A
ENST00000679945.1:n.130+2556C>A
ENST00000679964.1:n.50+1666C>A
ENST00000680139.1:c.742C>A	ENSP00000506148.1:p.Leu248Met
ENST00000680380.1:n.136+361C>A
ENST00000680562.1:c.376C>A	ENSP00000505853.1:p.Leu126Met
ENST00000680594.1:n.136+361C>A
ENST00000680903.1:c.805C>A	ENSP00000505720.1:p.Leu269Met
ENST00000681049.1:n.50+1666C>A
ENST00000681240.1:c.178C>A	ENSP00000506034.1:p.Leu60Met
ENST00000681336.1:c.175C>A	ENSP00000505242.1:p.Leu59Met
ENST00000681462.1:c.765C>A
ENST00000681595.1:c.489C>A	ENSP00000506023.1:n.489C>A
ENST00000681634.1:n.136+361C>A
ENST00000681694.1:c.240C>A	ENSP00000506552.1:n.240C>A
ENST00000681715.1:c.426C>A	ENSP00000506545.1:n.426C>A
ENST00000245414.8:c.928C>A	ENSP00000245414.4:p.Leu310Met
ENST00000405885.6:c.928C>A	ENSP00000384406.1:p.Leu310Met
ENST00000472045.1:n.4237C>A
NM_002198.2:c.928C>A	NP_002189.1:p.Leu310Met
XM_011543378.1:c.805C>A	XP_011541680.1:p.Leu269Met
XM_011543379.1:c.676C>A	XP_011541681.1:p.Leu226Met
XR_427711.2:n.989C>A
NM_001354924.1:c.805C>A	NP_001341853.1:p.Leu269Met
NM_001354925.1:c.742C>A	NP_001341854.1:p.Leu248Met
NR_149068.1:n.989C>A
XM_011543379.2:c.676C>A	XP_011541681.1:p.Leu226Met
NM_002198.3:c.928C>A MANE Select	NP_002189.1:p.Leu310Met