Canonical Allele Identifier: CA360813967
Gene: IRF1 HGNC NCBI

Linked Data

dbSNP Id: rs1754454136

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484037G>T , CM000667.2:g.132484037G>T GRCh38
NC_000005.9:g.131819729G>T , CM000667.1:g.131819729G>T GRCh37
NC_000005.8:g.131847628G>T NCBI36
NG_011450.1:g.11737C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.892C>A MANE Select ENSP00000245414.4:p.Leu298Met
ENST00000638452.2:c.-169+34348G>T ENSP00000492349.2:n.-169+34348G>T
ENST00000638504.1:n.206+64097G>T
ENST00000638568.2:c.-311+34348G>T ENSP00000491158.2:n.-311+34348G>T
ENST00000639899.1:n.289+34348G>T
ENST00000640655.2:c.-637-2155G>T ENSP00000491596.2:n.-637-2155G>T
ENST00000679743.1:c.513C>A ENSP00000505257.1:n.513C>A
ENST00000679786.1:n.130+2520C>A
ENST00000679860.1:c.180C>A
ENST00000679921.1:c.292+2520C>A ENSP00000505766.1:n.292+2520C>A
ENST00000679945.1:n.130+2520C>A
ENST00000679964.1:n.50+1630C>A
ENST00000680139.1:c.706C>A ENSP00000506148.1:p.Leu236Met
ENST00000680380.1:n.136+325C>A
ENST00000680562.1:c.340C>A ENSP00000505853.1:p.Leu114Met
ENST00000680594.1:n.136+325C>A
ENST00000680903.1:c.769C>A ENSP00000505720.1:p.Leu257Met
ENST00000681049.1:n.50+1630C>A
ENST00000681240.1:c.142C>A ENSP00000506034.1:p.Leu48Met
ENST00000681336.1:c.139C>A ENSP00000505242.1:p.Leu47Met
ENST00000681462.1:c.729C>A
ENST00000681595.1:c.453C>A ENSP00000506023.1:n.453C>A
ENST00000681634.1:n.136+325C>A
ENST00000681694.1:c.204C>A ENSP00000506552.1:n.204C>A
ENST00000681715.1:c.390C>A ENSP00000506545.1:n.390C>A
ENST00000245414.8:c.892C>A ENSP00000245414.4:p.Leu298Met
ENST00000405885.6:c.892C>A ENSP00000384406.1:p.Leu298Met
ENST00000472045.1:n.4201C>A
NM_002198.2:c.892C>A NP_002189.1:p.Leu298Met
XM_011543378.1:c.769C>A XP_011541680.1:p.Leu257Met
XM_011543379.1:c.640C>A XP_011541681.1:p.Leu214Met
XR_427711.2:n.953C>A
NM_001354924.1:c.769C>A NP_001341853.1:p.Leu257Met
NM_001354925.1:c.706C>A NP_001341854.1:p.Leu236Met
NR_149068.1:n.953C>A
XM_011543379.2:c.640C>A XP_011541681.1:p.Leu214Met
NM_002198.3:c.892C>A MANE Select NP_002189.1:p.Leu298Met