Canonical Allele Identifier: CA10558301

Gene: IRAK1

Linked Data

• dbSNP Id: rs11465830
• ExAC: X:153284198 C / A
• gnomAD v2: X-153284198-C-A
• gnomAD v3: X-154018747-C-A
• gnomAD v4: X-154018747-C-A
• MyVariant Identifiers: chrX:g.153284198C>A (hg19) ; chrX:g.154018747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154018747C>A , CM000685.2:g.154018747C>A	GRCh38
NC_000023.10:g.153284198C>A , CM000685.1:g.153284198C>A	GRCh37
NC_000023.9:g.152937392C>A	NCBI36
NG_008387.1:g.6145G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699980.1:n.125G>T
ENST00000369980.8:c.581G>T MANE Select	ENSP00000358997.3:p.Arg194Leu
ENST00000369973.7:c.659G>T	ENSP00000358990.3:p.Arg220Leu
ENST00000369974.6:c.581G>T	ENSP00000358991.2:p.Arg194Leu
ENST00000369980.7:c.581G>T	ENSP00000358997.3:p.Arg194Leu
ENST00000393687.6:c.581G>T	ENSP00000377291.2:p.Arg194Leu
ENST00000429936.6:c.659G>T	ENSP00000392662.2:p.Arg220Leu
ENST00000444230.5:c.528+228G>T	ENSP00000399974.1:n.528+228G>T
ENST00000463031.1:n.199G>T
NM_001025242.1:c.581G>T	NP_001020413.1:p.Arg194Leu
NM_001025243.1:c.581G>T	NP_001020414.1:p.Arg194Leu
NM_001569.3:c.581G>T	NP_001560.2:p.Arg194Leu
XM_005274668.2:c.659G>T	XP_005274725.1:p.Arg220Leu
XM_011531158.1:c.581G>T	XP_011529460.1:p.Arg194Leu
XM_005274668.4:c.659G>T	XP_005274725.1:p.Arg220Leu
NM_001569.4:c.581G>T MANE Select	NP_001560.2:p.Arg194Leu
NM_001025242.2:c.581G>T	NP_001020413.1:p.Arg194Leu
NM_001025243.2:c.581G>T	NP_001020414.1:p.Arg194Leu