Canonical Allele Identifier: CA446358324
Gene: IRF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131819685T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132483993T>A , CM000667.2:g.132483993T>A GRCh38
NC_000005.9:g.131819685T>A , CM000667.1:g.131819685T>A GRCh37
NC_000005.8:g.131847584T>A NCBI36
NG_011450.1:g.11781A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.936A>T MANE Select ENSP00000245414.4:p.Pro312=
ENST00000638452.2:c.-169+34304T>A ENSP00000492349.2:n.-169+34304T>A
ENST00000638504.1:n.206+64053T>A
ENST00000638568.2:c.-311+34304T>A ENSP00000491158.2:n.-311+34304T>A
ENST00000639899.1:n.289+34304T>A
ENST00000640655.2:c.-637-2199T>A ENSP00000491596.2:n.-637-2199T>A
ENST00000679743.1:c.557A>T ENSP00000505257.1:n.557A>T
ENST00000679786.1:n.130+2564A>T
ENST00000679860.1:c.224A>T
ENST00000679921.1:c.292+2564A>T ENSP00000505766.1:n.292+2564A>T
ENST00000679945.1:n.130+2564A>T
ENST00000679964.1:n.50+1674A>T
ENST00000680139.1:c.750A>T ENSP00000506148.1:p.Pro250=
ENST00000680380.1:n.136+369A>T
ENST00000680562.1:c.384A>T ENSP00000505853.1:p.Pro128=
ENST00000680594.1:n.136+369A>T
ENST00000680903.1:c.813A>T ENSP00000505720.1:p.Pro271=
ENST00000681049.1:n.50+1674A>T
ENST00000681240.1:c.186A>T ENSP00000506034.1:p.Pro62=
ENST00000681336.1:c.183A>T ENSP00000505242.1:p.Pro61=
ENST00000681462.1:c.773A>T
ENST00000681595.1:c.497A>T ENSP00000506023.1:n.497A>T
ENST00000681634.1:n.136+369A>T
ENST00000681694.1:c.248A>T ENSP00000506552.1:n.248A>T
ENST00000681715.1:c.434A>T ENSP00000506545.1:n.434A>T
ENST00000245414.8:c.936A>T ENSP00000245414.4:p.Pro312=
ENST00000405885.6:c.936A>T ENSP00000384406.1:p.Pro312=
ENST00000472045.1:n.4245A>T
NM_002198.2:c.936A>T NP_002189.1:p.Pro312=
XM_011543378.1:c.813A>T XP_011541680.1:p.Pro271=
XM_011543379.1:c.684A>T XP_011541681.1:p.Pro228=
XR_427711.2:n.997A>T
NM_001354924.1:c.813A>T NP_001341853.1:p.Pro271=
NM_001354925.1:c.750A>T NP_001341854.1:p.Pro250=
NR_149068.1:n.997A>T
XM_011543379.2:c.684A>T XP_011541681.1:p.Pro228=
NM_002198.3:c.936A>T MANE Select NP_002189.1:p.Pro312=