Canonical Allele Identifier: CA10558083

Gene: IRAK1

Linked Data

• dbSNP Id: rs782510148
• ExAC: X:153278736 G / A
• gnomAD v2: X-153278736-G-A
• gnomAD v4: X-154013285-G-A
• MyVariant Identifiers: chrX:g.153278736G>A (hg19) ; chrX:g.154013285G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013285G>A , CM000685.2:g.154013285G>A	GRCh38
NC_000023.10:g.153278736G>A , CM000685.1:g.153278736G>A	GRCh37
NC_000023.9:g.152931930G>A	NCBI36
NG_008387.1:g.11607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.468C>T
ENST00000699980.1:n.1232C>T
ENST00000369980.8:c.1688C>T MANE Select	ENSP00000358997.3:p.Pro563Leu
ENST00000369973.7:c.*631C>T	ENSP00000358990.3:n.*631C>T
ENST00000369974.6:c.1451C>T	ENSP00000358991.2:p.Pro484Leu
ENST00000369980.7:c.1688C>T	ENSP00000358997.3:p.Pro563Leu
ENST00000393687.6:c.1598C>T	ENSP00000377291.2:p.Pro533Leu
ENST00000429936.6:c.1676C>T	ENSP00000392662.2:p.Pro559Leu
ENST00000437278.5:c.379C>T
ENST00000443220.1:c.933C>T
ENST00000444230.5:c.529-2169C>T	ENSP00000399974.1:n.529-2169C>T
ENST00000444254.1:c.354C>T
ENST00000455690.5:c.280-607C>T	ENSP00000411809.1:n.280-607C>T
ENST00000477274.1:n.616-2474C>T
NM_001025242.1:c.1598C>T	NP_001020413.1:p.Pro533Leu
NM_001025243.1:c.1451C>T	NP_001020414.1:p.Pro484Leu
NM_001569.3:c.1688C>T	NP_001560.2:p.Pro563Leu
XM_005274668.2:c.1676C>T	XP_005274725.1:p.Pro559Leu
XM_011531158.1:c.1361C>T	XP_011529460.1:p.Pro454Leu
XM_005274668.4:c.1676C>T	XP_005274725.1:p.Pro559Leu
NM_001569.4:c.1688C>T MANE Select	NP_001560.2:p.Pro563Leu
NM_001025242.2:c.1598C>T	NP_001020413.1:p.Pro533Leu
NM_001025243.2:c.1451C>T	NP_001020414.1:p.Pro484Leu