Canonical Allele Identifier: CA360813906

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819704A>G (hg19) ; chr5:g.132484012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484012A>G , CM000667.2:g.132484012A>G	GRCh38
NC_000005.9:g.131819704A>G , CM000667.1:g.131819704A>G	GRCh37
NC_000005.8:g.131847603A>G	NCBI36
NG_011450.1:g.11762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.917T>C MANE Select	ENSP00000245414.4:p.Leu306Pro
ENST00000638452.2:c.-169+34323A>G	ENSP00000492349.2:n.-169+34323A>G
ENST00000638504.1:n.206+64072A>G
ENST00000638568.2:c.-311+34323A>G	ENSP00000491158.2:n.-311+34323A>G
ENST00000639899.1:n.289+34323A>G
ENST00000640655.2:c.-637-2180A>G	ENSP00000491596.2:n.-637-2180A>G
ENST00000679743.1:c.538T>C	ENSP00000505257.1:n.538T>C
ENST00000679786.1:n.130+2545T>C
ENST00000679860.1:c.205T>C
ENST00000679921.1:c.292+2545T>C	ENSP00000505766.1:n.292+2545T>C
ENST00000679945.1:n.130+2545T>C
ENST00000679964.1:n.50+1655T>C
ENST00000680139.1:c.731T>C	ENSP00000506148.1:p.Leu244Pro
ENST00000680380.1:n.136+350T>C
ENST00000680562.1:c.365T>C	ENSP00000505853.1:p.Leu122Pro
ENST00000680594.1:n.136+350T>C
ENST00000680903.1:c.794T>C	ENSP00000505720.1:p.Leu265Pro
ENST00000681049.1:n.50+1655T>C
ENST00000681240.1:c.167T>C	ENSP00000506034.1:p.Leu56Pro
ENST00000681336.1:c.164T>C	ENSP00000505242.1:p.Leu55Pro
ENST00000681462.1:c.754T>C
ENST00000681595.1:c.478T>C	ENSP00000506023.1:n.478T>C
ENST00000681634.1:n.136+350T>C
ENST00000681694.1:c.229T>C	ENSP00000506552.1:n.229T>C
ENST00000681715.1:c.415T>C	ENSP00000506545.1:n.415T>C
ENST00000245414.8:c.917T>C	ENSP00000245414.4:p.Leu306Pro
ENST00000405885.6:c.917T>C	ENSP00000384406.1:p.Leu306Pro
ENST00000472045.1:n.4226T>C
NM_002198.2:c.917T>C	NP_002189.1:p.Leu306Pro
XM_011543378.1:c.794T>C	XP_011541680.1:p.Leu265Pro
XM_011543379.1:c.665T>C	XP_011541681.1:p.Leu222Pro
XR_427711.2:n.978T>C
NM_001354924.1:c.794T>C	NP_001341853.1:p.Leu265Pro
NM_001354925.1:c.731T>C	NP_001341854.1:p.Leu244Pro
NR_149068.1:n.978T>C
XM_011543379.2:c.665T>C	XP_011541681.1:p.Leu222Pro
NM_002198.3:c.917T>C MANE Select	NP_002189.1:p.Leu306Pro