Canonical Allele Identifier: CA415139668

Gene: IRAK1

Linked Data

• MyVariant Identifiers: chrX:g.153278738C>G (hg19) ; chrX:g.154013287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013287C>G , CM000685.2:g.154013287C>G	GRCh38
NC_000023.10:g.153278738C>G , CM000685.1:g.153278738C>G	GRCh37
NC_000023.9:g.152931932C>G	NCBI36
NG_008387.1:g.11605G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.466G>C
ENST00000699980.1:n.1230G>C
ENST00000369980.8:c.1686G>C MANE Select	ENSP00000358997.3:p.Gln562His
ENST00000369973.7:c.*629G>C	ENSP00000358990.3:n.*629G>C
ENST00000369974.6:c.1449G>C	ENSP00000358991.2:p.Gln483His
ENST00000369980.7:c.1686G>C	ENSP00000358997.3:p.Gln562His
ENST00000393687.6:c.1596G>C	ENSP00000377291.2:p.Gln532His
ENST00000429936.6:c.1674G>C	ENSP00000392662.2:p.Gln558His
ENST00000437278.5:c.377G>C
ENST00000443220.1:c.931G>C
ENST00000444230.5:c.529-2171G>C	ENSP00000399974.1:n.529-2171G>C
ENST00000444254.1:c.352G>C
ENST00000455690.5:c.280-609G>C	ENSP00000411809.1:n.280-609G>C
ENST00000477274.1:n.616-2476G>C
NM_001025242.1:c.1596G>C	NP_001020413.1:p.Gln532His
NM_001025243.1:c.1449G>C	NP_001020414.1:p.Gln483His
NM_001569.3:c.1686G>C	NP_001560.2:p.Gln562His
XM_005274668.2:c.1674G>C	XP_005274725.1:p.Gln558His
XM_011531158.1:c.1359G>C	XP_011529460.1:p.Gln453His
XM_005274668.4:c.1674G>C	XP_005274725.1:p.Gln558His
NM_001569.4:c.1686G>C MANE Select	NP_001560.2:p.Gln562His
NM_001025242.2:c.1596G>C	NP_001020413.1:p.Gln532His
NM_001025243.2:c.1449G>C	NP_001020414.1:p.Gln483His