Canonical Allele Identifier: CA415139672

Gene: IRAK1

Linked Data

• dbSNP Id: rs1224876847
• gnomAD v3: X-154013288-T-G
• gnomAD v4: X-154013288-T-G
• MyVariant Identifiers: chrX:g.153278739T>G (hg19) ; chrX:g.154013288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013288T>G , CM000685.2:g.154013288T>G	GRCh38
NC_000023.10:g.153278739T>G , CM000685.1:g.153278739T>G	GRCh37
NC_000023.9:g.152931933T>G	NCBI36
NG_008387.1:g.11604A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.465A>C
ENST00000699980.1:n.1229A>C
ENST00000369980.8:c.1685A>C MANE Select	ENSP00000358997.3:p.Gln562Pro
ENST00000369973.7:c.*628A>C	ENSP00000358990.3:n.*628A>C
ENST00000369974.6:c.1448A>C	ENSP00000358991.2:p.Gln483Pro
ENST00000369980.7:c.1685A>C	ENSP00000358997.3:p.Gln562Pro
ENST00000393687.6:c.1595A>C	ENSP00000377291.2:p.Gln532Pro
ENST00000429936.6:c.1673A>C	ENSP00000392662.2:p.Gln558Pro
ENST00000437278.5:c.376A>C
ENST00000443220.1:c.930A>C
ENST00000444230.5:c.529-2172A>C	ENSP00000399974.1:n.529-2172A>C
ENST00000444254.1:c.351A>C
ENST00000455690.5:c.280-610A>C	ENSP00000411809.1:n.280-610A>C
ENST00000477274.1:n.616-2477A>C
NM_001025242.1:c.1595A>C	NP_001020413.1:p.Gln532Pro
NM_001025243.1:c.1448A>C	NP_001020414.1:p.Gln483Pro
NM_001569.3:c.1685A>C	NP_001560.2:p.Gln562Pro
XM_005274668.2:c.1673A>C	XP_005274725.1:p.Gln558Pro
XM_011531158.1:c.1358A>C	XP_011529460.1:p.Gln453Pro
XM_005274668.4:c.1673A>C	XP_005274725.1:p.Gln558Pro
NM_001569.4:c.1685A>C MANE Select	NP_001560.2:p.Gln562Pro
NM_001025242.2:c.1595A>C	NP_001020413.1:p.Gln532Pro
NM_001025243.2:c.1448A>C	NP_001020414.1:p.Gln483Pro