Canonical Allele Identifier: CA415140885

Gene: IRAK1

Linked Data

• gnomAD v4: X-154013385-C-A
• MyVariant Identifiers: chrX:g.153278836C>A (hg19) ; chrX:g.154013385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013385C>A , CM000685.2:g.154013385C>A	GRCh38
NC_000023.10:g.153278836C>A , CM000685.1:g.153278836C>A	GRCh37
NC_000023.9:g.152932030C>A	NCBI36
NG_008387.1:g.11507G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.368G>T
ENST00000699980.1:n.1132G>T
ENST00000369980.8:c.1588G>T MANE Select	ENSP00000358997.3:p.Gly530Trp
ENST00000369973.7:c.*531G>T	ENSP00000358990.3:n.*531G>T
ENST00000369974.6:c.1351G>T	ENSP00000358991.2:p.Gly451Trp
ENST00000369980.7:c.1588G>T	ENSP00000358997.3:p.Gly530Trp
ENST00000393687.6:c.1540-42G>T	ENSP00000377291.2:n.1540-42G>T
ENST00000429936.6:c.1618-42G>T	ENSP00000392662.2:n.1618-42G>T
ENST00000437278.5:c.321-42G>T
ENST00000443220.1:c.833G>T
ENST00000444230.5:c.529-2269G>T	ENSP00000399974.1:n.529-2269G>T
ENST00000444254.1:c.254G>T
ENST00000455690.5:c.279+657G>T	ENSP00000411809.1:n.279+657G>T
ENST00000467236.1:n.385G>T
ENST00000477274.1:n.616-2574G>T
NM_001025242.1:c.1540-42G>T	NP_001020413.1:n.1540-42G>T
NM_001025243.1:c.1351G>T	NP_001020414.1:p.Gly451Trp
NM_001569.3:c.1588G>T	NP_001560.2:p.Gly530Trp
XM_005274668.2:c.1618-42G>T	XP_005274725.1:n.1618-42G>T
XM_011531158.1:c.1303-42G>T	XP_011529460.1:n.1303-42G>T
XM_005274668.4:c.1618-42G>T	XP_005274725.1:n.1618-42G>T
NM_001569.4:c.1588G>T MANE Select	NP_001560.2:p.Gly530Trp
NM_001025242.2:c.1540-42G>T	NP_001020413.1:n.1540-42G>T
NM_001025243.2:c.1351G>T	NP_001020414.1:p.Gly451Trp