Canonical Allele Identifier: CA360813935
Gene: IRF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484025C>A , CM000667.2:g.132484025C>A GRCh38
NC_000005.9:g.131819717C>A , CM000667.1:g.131819717C>A GRCh37
NC_000005.8:g.131847616C>A NCBI36
NG_011450.1:g.11749G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.904G>T MANE Select ENSP00000245414.4:p.Asp302Tyr
ENST00000638452.2:c.-169+34336C>A ENSP00000492349.2:n.-169+34336C>A
ENST00000638504.1:n.206+64085C>A
ENST00000638568.2:c.-311+34336C>A ENSP00000491158.2:n.-311+34336C>A
ENST00000639899.1:n.289+34336C>A
ENST00000640655.2:c.-637-2167C>A ENSP00000491596.2:n.-637-2167C>A
ENST00000679743.1:c.525G>T ENSP00000505257.1:n.525G>T
ENST00000679786.1:n.130+2532G>T
ENST00000679860.1:c.192G>T
ENST00000679921.1:c.292+2532G>T ENSP00000505766.1:n.292+2532G>T
ENST00000679945.1:n.130+2532G>T
ENST00000679964.1:n.50+1642G>T
ENST00000680139.1:c.718G>T ENSP00000506148.1:p.Asp240Tyr
ENST00000680380.1:n.136+337G>T
ENST00000680562.1:c.352G>T ENSP00000505853.1:p.Asp118Tyr
ENST00000680594.1:n.136+337G>T
ENST00000680903.1:c.781G>T ENSP00000505720.1:p.Asp261Tyr
ENST00000681049.1:n.50+1642G>T
ENST00000681240.1:c.154G>T ENSP00000506034.1:p.Asp52Tyr
ENST00000681336.1:c.151G>T ENSP00000505242.1:p.Asp51Tyr
ENST00000681462.1:c.741G>T
ENST00000681595.1:c.465G>T ENSP00000506023.1:n.465G>T
ENST00000681634.1:n.136+337G>T
ENST00000681694.1:c.216G>T ENSP00000506552.1:n.216G>T
ENST00000681715.1:c.402G>T ENSP00000506545.1:n.402G>T
ENST00000245414.8:c.904G>T ENSP00000245414.4:p.Asp302Tyr
ENST00000405885.6:c.904G>T ENSP00000384406.1:p.Asp302Tyr
ENST00000472045.1:n.4213G>T
NM_002198.2:c.904G>T NP_002189.1:p.Asp302Tyr
XM_011543378.1:c.781G>T XP_011541680.1:p.Asp261Tyr
XM_011543379.1:c.652G>T XP_011541681.1:p.Asp218Tyr
XR_427711.2:n.965G>T
NM_001354924.1:c.781G>T NP_001341853.1:p.Asp261Tyr
NM_001354925.1:c.718G>T NP_001341854.1:p.Asp240Tyr
NR_149068.1:n.965G>T
XM_011543379.2:c.652G>T XP_011541681.1:p.Asp218Tyr
NM_002198.3:c.904G>T MANE Select NP_002189.1:p.Asp302Tyr