Canonical Allele Identifier: CA415150427

Gene: IRAK1

Linked Data

• gnomAD v4: X-154018653-G-T
• MyVariant Identifiers: chrX:g.153284104G>T (hg19) ; chrX:g.154018653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154018653G>T , CM000685.2:g.154018653G>T	GRCh38
NC_000023.10:g.153284104G>T , CM000685.1:g.153284104G>T	GRCh37
NC_000023.9:g.152937298G>T	NCBI36
NG_008387.1:g.6239C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699980.1:n.219C>A
ENST00000369980.8:c.675C>A MANE Select	ENSP00000358997.3:p.Cys225Ter
ENST00000369973.7:c.753C>A	ENSP00000358990.3:p.Cys251Ter
ENST00000369974.6:c.675C>A	ENSP00000358991.2:p.Cys225Ter
ENST00000369980.7:c.675C>A	ENSP00000358997.3:p.Cys225Ter
ENST00000393687.6:c.675C>A	ENSP00000377291.2:p.Cys225Ter
ENST00000429936.6:c.753C>A	ENSP00000392662.2:p.Cys251Ter
ENST00000444230.5:c.528+322C>A	ENSP00000399974.1:n.528+322C>A
ENST00000463031.1:n.293C>A
NM_001025242.1:c.675C>A	NP_001020413.1:p.Cys225Ter
NM_001025243.1:c.675C>A	NP_001020414.1:p.Cys225Ter
NM_001569.3:c.675C>A	NP_001560.2:p.Cys225Ter
XM_005274668.2:c.753C>A	XP_005274725.1:p.Cys251Ter
XM_011531158.1:c.675C>A	XP_011529460.1:p.Cys225Ter
XM_005274668.4:c.753C>A	XP_005274725.1:p.Cys251Ter
NM_001569.4:c.675C>A MANE Select	NP_001560.2:p.Cys225Ter
NM_001025242.2:c.675C>A	NP_001020413.1:p.Cys225Ter
NM_001025243.2:c.675C>A	NP_001020414.1:p.Cys225Ter