Canonical Allele Identifier: CA10558093

Gene: IRAK1

Linked Data

• dbSNP Id: rs781931439
• ExAC: X:153278841 A / C
• gnomAD v2: X-153278841-A-C
• gnomAD v3: X-154013390-A-C
• gnomAD v4: X-154013390-A-C
• MyVariant Identifiers: chrX:g.153278841A>C (hg19) ; chrX:g.154013390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013390A>C , CM000685.2:g.154013390A>C	GRCh38
NC_000023.10:g.153278841A>C , CM000685.1:g.153278841A>C	GRCh37
NC_000023.9:g.152932035A>C	NCBI36
NG_008387.1:g.11502T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.363T>G
ENST00000699980.1:n.1127T>G
ENST00000369980.8:c.1583T>G MANE Select	ENSP00000358997.3:p.Val528Gly
ENST00000369973.7:c.*526T>G	ENSP00000358990.3:n.*526T>G
ENST00000369974.6:c.1346T>G	ENSP00000358991.2:p.Val449Gly
ENST00000369980.7:c.1583T>G	ENSP00000358997.3:p.Val528Gly
ENST00000393687.6:c.1540-47T>G	ENSP00000377291.2:n.1540-47T>G
ENST00000429936.6:c.1618-47T>G	ENSP00000392662.2:n.1618-47T>G
ENST00000437278.5:c.321-47T>G
ENST00000443220.1:c.828T>G
ENST00000444230.5:c.529-2274T>G	ENSP00000399974.1:n.529-2274T>G
ENST00000444254.1:c.249T>G
ENST00000455690.5:c.279+652T>G	ENSP00000411809.1:n.279+652T>G
ENST00000467236.1:n.380T>G
ENST00000477274.1:n.616-2579T>G
NM_001025242.1:c.1540-47T>G	NP_001020413.1:n.1540-47T>G
NM_001025243.1:c.1346T>G	NP_001020414.1:p.Val449Gly
NM_001569.3:c.1583T>G	NP_001560.2:p.Val528Gly
XM_005274668.2:c.1618-47T>G	XP_005274725.1:n.1618-47T>G
XM_011531158.1:c.1303-47T>G	XP_011529460.1:n.1303-47T>G
XM_005274668.4:c.1618-47T>G	XP_005274725.1:n.1618-47T>G
NM_001569.4:c.1583T>G MANE Select	NP_001560.2:p.Val528Gly
NM_001025242.2:c.1540-47T>G	NP_001020413.1:n.1540-47T>G
NM_001025243.2:c.1346T>G	NP_001020414.1:p.Val449Gly