Canonical Allele Identifier: CA1363031307

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467323C= , CM000665.2:g.48467323C=	GRCh38
NC_000003.11:g.48508722C= , CM000665.1:g.48508722C=	GRCh37
NC_000003.10:g.48483726C=	NCBI36
NG_009820.1:g.6494C=
NG_033100.1:g.38538G=
NG_041782.1:g.25614C=
NG_009820.2:g.6494C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1769C= (ATRIP) MANE Select	ENSP00000323099.3:n.*1769C=
ENST00000492235.2:c.251C= (TREX1)	ENSP00000494511.1:p.Ala84=
ENST00000625293.3:c.668C= (TREX1) MANE Select	ENSP00000486676.2:p.Ala223=
ENST00000634384.2:c.3263C= (ATRIP)
ENST00000635452.2:c.251C= (TREX1)	ENSP00000492023.2:p.Ala84=
ENST00000296443.11:c.668C=	ENSP00000296443.11:p.Ala223=
ENST00000433541.1:c.251C= (TREX1)	ENSP00000412404.1:p.Ala84=
ENST00000444177.1:c.638C= (TREX1)	ENSP00000415972.1:p.Ala213=
ENST00000456089.1:c.251C= (TREX1)	ENSP00000411331.1:p.Ala84=
ENST00000492235.1:n.586C= (TREX1)
ENST00000625293.1:c.833C= (TREX1)	ENSP00000486676.1:p.Ala278=
ENST00000629913.1:c.668C= (TREX1)	ENSP00000486444.1:p.Ala223=
ENST00000634384.1:c.*3488C=	ENSP00000489041.1:n.*3488C=
ENST00000635452.1:n.1875C=
ENST00000635464.1:c.3621C=	ENSP00000489199.1:n.3621C=
NM_007248.3:c.638C= (TREX1)	NP_009179.2:p.Ala213=
NM_016381.5:c.833C= (TREX1)	NP_057465.1:p.Ala278=
NM_033629.4:c.668C= (TREX1)	NP_338599.1:p.Ala223=
NM_007248.4:c.638C= (TREX1)	NP_009179.2:p.Ala213=
NM_033629.5:c.668C= (TREX1)	NP_338599.1:p.Ala223=
NR_153405.1:n.3977C=
NM_033629.6:c.668C= (TREX1) MANE Select	NP_338599.1:p.Ala223=
NM_130384.3:c.*1769C= (ATRIP) MANE Select	NP_569055.1:n.*1769C=
NM_001271023.2:c.*1769C= (ATRIP)	NP_001257952.1:n.*1769C=
NM_007248.5:c.638C= (TREX1)	NP_009179.2:p.Ala213=
NM_032166.4:c.*1769C= (ATRIP)	NP_115542.2:n.*1769C=
NM_001271022.2:c.*1769C= (ATRIP)	NP_001257951.1:n.*1769C=