Canonical Allele Identifier: CA415139560
Gene: IRAK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154013283G>C , CM000685.2:g.154013283G>C GRCh38
NC_000023.10:g.153278734G>C , CM000685.1:g.153278734G>C GRCh37
NC_000023.9:g.152931928G>C NCBI36
NG_008387.1:g.11609C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000467236.2:n.470C>G
ENST00000699980.1:n.1234C>G
ENST00000369980.8:c.1690C>G MANE Select ENSP00000358997.3:p.Leu564Val
ENST00000369973.7:c.*633C>G ENSP00000358990.3:n.*633C>G
ENST00000369974.6:c.1453C>G ENSP00000358991.2:p.Leu485Val
ENST00000369980.7:c.1690C>G ENSP00000358997.3:p.Leu564Val
ENST00000393687.6:c.1600C>G ENSP00000377291.2:p.Leu534Val
ENST00000429936.6:c.1678C>G ENSP00000392662.2:p.Leu560Val
ENST00000437278.5:c.381C>G
ENST00000443220.1:c.935C>G
ENST00000444230.5:c.529-2167C>G ENSP00000399974.1:n.529-2167C>G
ENST00000444254.1:c.356C>G
ENST00000455690.5:c.280-605C>G ENSP00000411809.1:n.280-605C>G
ENST00000477274.1:n.616-2472C>G
NM_001025242.1:c.1600C>G NP_001020413.1:p.Leu534Val
NM_001025243.1:c.1453C>G NP_001020414.1:p.Leu485Val
NM_001569.3:c.1690C>G NP_001560.2:p.Leu564Val
XM_005274668.2:c.1678C>G XP_005274725.1:p.Leu560Val
XM_011531158.1:c.1363C>G XP_011529460.1:p.Leu455Val
XM_005274668.4:c.1678C>G XP_005274725.1:p.Leu560Val
NM_001569.4:c.1690C>G MANE Select NP_001560.2:p.Leu564Val
NM_001025242.2:c.1600C>G NP_001020413.1:p.Leu534Val
NM_001025243.2:c.1453C>G NP_001020414.1:p.Leu485Val