Canonical Allele Identifier: CA337253462

Gene: IRAK1

Linked Data

• dbSNP Id: rs950757034
• gnomAD v3: X-154013283-G-A
• gnomAD v4: X-154013283-G-A
• MyVariant Identifiers: chrX:g.153278734G>A (hg19) ; chrX:g.154013283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013283G>A , CM000685.2:g.154013283G>A	GRCh38
NC_000023.10:g.153278734G>A , CM000685.1:g.153278734G>A	GRCh37
NC_000023.9:g.152931928G>A	NCBI36
NG_008387.1:g.11609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.470C>T
ENST00000699980.1:n.1234C>T
ENST00000369980.8:c.1690C>T MANE Select	ENSP00000358997.3:p.Leu564=
ENST00000369973.7:c.*633C>T	ENSP00000358990.3:n.*633C>T
ENST00000369974.6:c.1453C>T	ENSP00000358991.2:p.Leu485=
ENST00000369980.7:c.1690C>T	ENSP00000358997.3:p.Leu564=
ENST00000393687.6:c.1600C>T	ENSP00000377291.2:p.Leu534=
ENST00000429936.6:c.1678C>T	ENSP00000392662.2:p.Leu560=
ENST00000437278.5:c.381C>T
ENST00000443220.1:c.935C>T
ENST00000444230.5:c.529-2167C>T	ENSP00000399974.1:n.529-2167C>T
ENST00000444254.1:c.356C>T
ENST00000455690.5:c.280-605C>T	ENSP00000411809.1:n.280-605C>T
ENST00000477274.1:n.616-2472C>T
NM_001025242.1:c.1600C>T	NP_001020413.1:p.Leu534=
NM_001025243.1:c.1453C>T	NP_001020414.1:p.Leu485=
NM_001569.3:c.1690C>T	NP_001560.2:p.Leu564=
XM_005274668.2:c.1678C>T	XP_005274725.1:p.Leu560=
XM_011531158.1:c.1363C>T	XP_011529460.1:p.Leu455=
XM_005274668.4:c.1678C>T	XP_005274725.1:p.Leu560=
NM_001569.4:c.1690C>T MANE Select	NP_001560.2:p.Leu564=
NM_001025242.2:c.1600C>T	NP_001020413.1:p.Leu534=
NM_001025243.2:c.1453C>T	NP_001020414.1:p.Leu485=