Canonical Allele Identifier: CA1363031280

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467283T= , CM000665.2:g.48467283T=	GRCh38
NC_000003.11:g.48508682T= , CM000665.1:g.48508682T=	GRCh37
NC_000003.10:g.48483686T=	NCBI36
NG_009820.1:g.6454T=
NG_033100.1:g.38578A=
NG_041782.1:g.25574T=
NG_009820.2:g.6454T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1729T= (ATRIP) MANE Select	ENSP00000323099.3:n.*1729T=
ENST00000492235.2:c.211T= (TREX1)	ENSP00000494511.1:p.Trp71=
ENST00000625293.3:c.628T= (TREX1) MANE Select	ENSP00000486676.2:p.Trp210=
ENST00000634384.2:c.3223T= (ATRIP)
ENST00000635452.2:c.211T= (TREX1)	ENSP00000492023.2:p.Trp71=
ENST00000296443.11:c.628T=	ENSP00000296443.11:p.Trp210=
ENST00000433541.1:c.211T= (TREX1)	ENSP00000412404.1:p.Trp71=
ENST00000444177.1:c.598T= (TREX1)	ENSP00000415972.1:p.Trp200=
ENST00000456089.1:c.211T= (TREX1)	ENSP00000411331.1:p.Trp71=
ENST00000492235.1:n.546T= (TREX1)
ENST00000625293.1:c.793T= (TREX1)	ENSP00000486676.1:p.Trp265=
ENST00000629913.1:c.628T= (TREX1)	ENSP00000486444.1:p.Trp210=
ENST00000634384.1:c.*3448T=	ENSP00000489041.1:n.*3448T=
ENST00000635452.1:n.1835T=
ENST00000635464.1:c.3581T=	ENSP00000489199.1:n.3581T=
NM_007248.3:c.598T= (TREX1)	NP_009179.2:p.Trp200=
NM_016381.5:c.793T= (TREX1)	NP_057465.1:p.Trp265=
NM_033629.4:c.628T= (TREX1)	NP_338599.1:p.Trp210=
NM_007248.4:c.598T= (TREX1)	NP_009179.2:p.Trp200=
NM_033629.5:c.628T= (TREX1)	NP_338599.1:p.Trp210=
NR_153405.1:n.3937T=
NM_033629.6:c.628T= (TREX1) MANE Select	NP_338599.1:p.Trp210=
NM_130384.3:c.*1729T= (ATRIP) MANE Select	NP_569055.1:n.*1729T=
NM_001271023.2:c.*1729T= (ATRIP)	NP_001257952.1:n.*1729T=
NM_007248.5:c.598T= (TREX1)	NP_009179.2:p.Trp200=
NM_032166.4:c.*1729T= (ATRIP)	NP_115542.2:n.*1729T=
NM_001271022.2:c.*1729T= (ATRIP)	NP_001257951.1:n.*1729T=