Canonical Allele Identifier: CA1363031302

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467318T= , CM000665.2:g.48467318T=	GRCh38
NC_000003.11:g.48508717T= , CM000665.1:g.48508717T=	GRCh37
NC_000003.10:g.48483721T=	NCBI36
NG_009820.1:g.6489T=
NG_033100.1:g.38543A=
NG_041782.1:g.25609T=
NG_009820.2:g.6489T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1764T= (ATRIP) MANE Select	ENSP00000323099.3:n.*1764T=
ENST00000492235.2:c.246T= (TREX1)	ENSP00000494511.1:p.Ala82=
ENST00000625293.3:c.663T= (TREX1) MANE Select	ENSP00000486676.2:p.Ala221=
ENST00000634384.2:c.3258T= (ATRIP)
ENST00000635452.2:c.246T= (TREX1)	ENSP00000492023.2:p.Ala82=
ENST00000296443.11:c.663T=	ENSP00000296443.11:p.Ala221=
ENST00000433541.1:c.246T= (TREX1)	ENSP00000412404.1:p.Ala82=
ENST00000444177.1:c.633T= (TREX1)	ENSP00000415972.1:p.Ala211=
ENST00000456089.1:c.246T= (TREX1)	ENSP00000411331.1:p.Ala82=
ENST00000492235.1:n.581T= (TREX1)
ENST00000625293.1:c.828T= (TREX1)	ENSP00000486676.1:p.Ala276=
ENST00000629913.1:c.663T= (TREX1)	ENSP00000486444.1:p.Ala221=
ENST00000634384.1:c.*3483T=	ENSP00000489041.1:n.*3483T=
ENST00000635452.1:n.1870T=
ENST00000635464.1:c.3616T=	ENSP00000489199.1:n.3616T=
NM_007248.3:c.633T= (TREX1)	NP_009179.2:p.Ala211=
NM_016381.5:c.828T= (TREX1)	NP_057465.1:p.Ala276=
NM_033629.4:c.663T= (TREX1)	NP_338599.1:p.Ala221=
NM_007248.4:c.633T= (TREX1)	NP_009179.2:p.Ala211=
NM_033629.5:c.663T= (TREX1)	NP_338599.1:p.Ala221=
NR_153405.1:n.3972T=
NM_033629.6:c.663T= (TREX1) MANE Select	NP_338599.1:p.Ala221=
NM_130384.3:c.*1764T= (ATRIP) MANE Select	NP_569055.1:n.*1764T=
NM_001271023.2:c.*1764T= (ATRIP)	NP_001257952.1:n.*1764T=
NM_007248.5:c.633T= (TREX1)	NP_009179.2:p.Ala211=
NM_032166.4:c.*1764T= (ATRIP)	NP_115542.2:n.*1764T=
NM_001271022.2:c.*1764T= (ATRIP)	NP_001257951.1:n.*1764T=