Canonical Allele Identifier: CA415141291

Gene: IRAK1

Linked Data

• dbSNP Id: rs1557128179
• gnomAD v2: X-153278877-T-G
• gnomAD v4: X-154013426-T-G
• MyVariant Identifiers: chrX:g.153278877T>G (hg19) ; chrX:g.154013426T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013426T>G , CM000685.2:g.154013426T>G	GRCh38
NC_000023.10:g.153278877T>G , CM000685.1:g.153278877T>G	GRCh37
NC_000023.9:g.152932071T>G	NCBI36
NG_008387.1:g.11466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.327A>C
ENST00000699980.1:n.1091A>C
ENST00000369980.8:c.1547A>C MANE Select	ENSP00000358997.3:p.Glu516Ala
ENST00000369973.7:c.*490A>C	ENSP00000358990.3:n.*490A>C
ENST00000369974.6:c.1310A>C	ENSP00000358991.2:p.Glu437Ala
ENST00000369980.7:c.1547A>C	ENSP00000358997.3:p.Glu516Ala
ENST00000393687.6:c.1540-83A>C	ENSP00000377291.2:n.1540-83A>C
ENST00000429936.6:c.1618-83A>C	ENSP00000392662.2:n.1618-83A>C
ENST00000437278.5:c.321-83A>C
ENST00000443220.1:c.792A>C
ENST00000444230.5:c.529-2310A>C	ENSP00000399974.1:n.529-2310A>C
ENST00000444254.1:c.213A>C
ENST00000455690.5:c.279+616A>C	ENSP00000411809.1:n.279+616A>C
ENST00000467236.1:n.344A>C
ENST00000477274.1:n.615+2613A>C
NM_001025242.1:c.1540-83A>C	NP_001020413.1:n.1540-83A>C
NM_001025243.1:c.1310A>C	NP_001020414.1:p.Glu437Ala
NM_001569.3:c.1547A>C	NP_001560.2:p.Glu516Ala
XM_005274668.2:c.1618-83A>C	XP_005274725.1:n.1618-83A>C
XM_011531158.1:c.1303-83A>C	XP_011529460.1:n.1303-83A>C
XM_005274668.4:c.1618-83A>C	XP_005274725.1:n.1618-83A>C
NM_001569.4:c.1547A>C MANE Select	NP_001560.2:p.Glu516Ala
NM_001025242.2:c.1540-83A>C	NP_001020413.1:n.1540-83A>C
NM_001025243.2:c.1310A>C	NP_001020414.1:p.Glu437Ala