Canonical Allele Identifier: CA415141241

Gene: IRAK1

Linked Data

• MyVariant Identifiers: chrX:g.153278873C>A (hg19) ; chrX:g.154013422C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154013422C>A , CM000685.2:g.154013422C>A	GRCh38
NC_000023.10:g.153278873C>A , CM000685.1:g.153278873C>A	GRCh37
NC_000023.9:g.152932067C>A	NCBI36
NG_008387.1:g.11470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467236.2:n.331G>T
ENST00000699980.1:n.1095G>T
ENST00000369980.8:c.1551G>T MANE Select	ENSP00000358997.3:p.Arg517Ser
ENST00000369973.7:c.*494G>T	ENSP00000358990.3:n.*494G>T
ENST00000369974.6:c.1314G>T	ENSP00000358991.2:p.Arg438Ser
ENST00000369980.7:c.1551G>T	ENSP00000358997.3:p.Arg517Ser
ENST00000393687.6:c.1540-79G>T	ENSP00000377291.2:n.1540-79G>T
ENST00000429936.6:c.1618-79G>T	ENSP00000392662.2:n.1618-79G>T
ENST00000437278.5:c.321-79G>T
ENST00000443220.1:c.796G>T
ENST00000444230.5:c.529-2306G>T	ENSP00000399974.1:n.529-2306G>T
ENST00000444254.1:c.217G>T
ENST00000455690.5:c.279+620G>T	ENSP00000411809.1:n.279+620G>T
ENST00000467236.1:n.348G>T
ENST00000477274.1:n.616-2611G>T
NM_001025242.1:c.1540-79G>T	NP_001020413.1:n.1540-79G>T
NM_001025243.1:c.1314G>T	NP_001020414.1:p.Arg438Ser
NM_001569.3:c.1551G>T	NP_001560.2:p.Arg517Ser
XM_005274668.2:c.1618-79G>T	XP_005274725.1:n.1618-79G>T
XM_011531158.1:c.1303-79G>T	XP_011529460.1:n.1303-79G>T
XM_005274668.4:c.1618-79G>T	XP_005274725.1:n.1618-79G>T
NM_001569.4:c.1551G>T MANE Select	NP_001560.2:p.Arg517Ser
NM_001025242.2:c.1540-79G>T	NP_001020413.1:n.1540-79G>T
NM_001025243.2:c.1314G>T	NP_001020414.1:p.Arg438Ser