Canonical Allele Identifier: CA415141141

Gene: IRAK1

Linked Data

• gnomAD v4: X-154013409-G-T
• MyVariant Identifiers: chrX:g.153278860G>T (hg19) ; chrX:g.154013409G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013409G>T , CM000685.2:g.154013409G>T	GRCh38
NC_000023.10:g.153278860G>T , CM000685.1:g.153278860G>T	GRCh37
NC_000023.9:g.152932054G>T	NCBI36
NG_008387.1:g.11483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.344C>A
ENST00000699980.1:n.1108C>A
ENST00000369980.8:c.1564C>A MANE Select	ENSP00000358997.3:p.Gln522Lys
ENST00000369973.7:c.*507C>A	ENSP00000358990.3:n.*507C>A
ENST00000369974.6:c.1327C>A	ENSP00000358991.2:p.Gln443Lys
ENST00000369980.7:c.1564C>A	ENSP00000358997.3:p.Gln522Lys
ENST00000393687.6:c.1540-66C>A	ENSP00000377291.2:n.1540-66C>A
ENST00000429936.6:c.1618-66C>A	ENSP00000392662.2:n.1618-66C>A
ENST00000437278.5:c.321-66C>A
ENST00000443220.1:c.809C>A
ENST00000444230.5:c.529-2293C>A	ENSP00000399974.1:n.529-2293C>A
ENST00000444254.1:c.230C>A
ENST00000455690.5:c.279+633C>A	ENSP00000411809.1:n.279+633C>A
ENST00000467236.1:n.361C>A
ENST00000477274.1:n.616-2598C>A
NM_001025242.1:c.1540-66C>A	NP_001020413.1:n.1540-66C>A
NM_001025243.1:c.1327C>A	NP_001020414.1:p.Gln443Lys
NM_001569.3:c.1564C>A	NP_001560.2:p.Gln522Lys
XM_005274668.2:c.1618-66C>A	XP_005274725.1:n.1618-66C>A
XM_011531158.1:c.1303-66C>A	XP_011529460.1:n.1303-66C>A
XM_005274668.4:c.1618-66C>A	XP_005274725.1:n.1618-66C>A
NM_001569.4:c.1564C>A MANE Select	NP_001560.2:p.Gln522Lys
NM_001025242.2:c.1540-66C>A	NP_001020413.1:n.1540-66C>A
NM_001025243.2:c.1327C>A	NP_001020414.1:p.Gln443Lys