Canonical Allele Identifier: CA415140910

Gene: IRAK1

Linked Data

• dbSNP Id: rs2065715496
• gnomAD v3: X-154013388-G-C
• gnomAD v4: X-154013388-G-C
• MyVariant Identifiers: chrX:g.153278839G>C (hg19) ; chrX:g.154013388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013388G>C , CM000685.2:g.154013388G>C	GRCh38
NC_000023.10:g.153278839G>C , CM000685.1:g.153278839G>C	GRCh37
NC_000023.9:g.152932033G>C	NCBI36
NG_008387.1:g.11504C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.365C>G
ENST00000699980.1:n.1129C>G
ENST00000369980.8:c.1585C>G MANE Select	ENSP00000358997.3:p.Pro529Ala
ENST00000369973.7:c.*528C>G	ENSP00000358990.3:n.*528C>G
ENST00000369974.6:c.1348C>G	ENSP00000358991.2:p.Pro450Ala
ENST00000369980.7:c.1585C>G	ENSP00000358997.3:p.Pro529Ala
ENST00000393687.6:c.1540-45C>G	ENSP00000377291.2:n.1540-45C>G
ENST00000429936.6:c.1618-45C>G	ENSP00000392662.2:n.1618-45C>G
ENST00000437278.5:c.321-45C>G
ENST00000443220.1:c.830C>G
ENST00000444230.5:c.529-2272C>G	ENSP00000399974.1:n.529-2272C>G
ENST00000444254.1:c.251C>G
ENST00000455690.5:c.279+654C>G	ENSP00000411809.1:n.279+654C>G
ENST00000467236.1:n.382C>G
ENST00000477274.1:n.616-2577C>G
NM_001025242.1:c.1540-45C>G	NP_001020413.1:n.1540-45C>G
NM_001025243.1:c.1348C>G	NP_001020414.1:p.Pro450Ala
NM_001569.3:c.1585C>G	NP_001560.2:p.Pro529Ala
XM_005274668.2:c.1618-45C>G	XP_005274725.1:n.1618-45C>G
XM_011531158.1:c.1303-45C>G	XP_011529460.1:n.1303-45C>G
XM_005274668.4:c.1618-45C>G	XP_005274725.1:n.1618-45C>G
NM_001569.4:c.1585C>G MANE Select	NP_001560.2:p.Pro529Ala
NM_001025242.2:c.1540-45C>G	NP_001020413.1:n.1540-45C>G
NM_001025243.2:c.1348C>G	NP_001020414.1:p.Pro450Ala