Canonical Allele Identifier: CA1363031242

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467211C= , CM000665.2:g.48467211C=	GRCh38
NC_000003.11:g.48508610C= , CM000665.1:g.48508610C=	GRCh37
NC_000003.10:g.48483614C=	NCBI36
NG_009820.1:g.6382C=
NG_033100.1:g.38650G=
NG_041782.1:g.25502C=
NG_009820.2:g.6382C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1657C= (ATRIP) MANE Select	ENSP00000323099.3:n.*1657C=
ENST00000492235.2:c.139C= (TREX1)	ENSP00000494511.1:p.Leu47=
ENST00000625293.3:c.556C= (TREX1) MANE Select	ENSP00000486676.2:p.Leu186=
ENST00000634384.2:c.3151C= (ATRIP)
ENST00000635452.2:c.139C= (TREX1)	ENSP00000492023.2:p.Leu47=
ENST00000296443.11:c.556C=	ENSP00000296443.11:p.Leu186=
ENST00000433541.1:c.139C= (TREX1)	ENSP00000412404.1:p.Leu47=
ENST00000444177.1:c.526C= (TREX1)	ENSP00000415972.1:p.Leu176=
ENST00000456089.1:c.139C= (TREX1)	ENSP00000411331.1:p.Leu47=
ENST00000492235.1:n.474C= (TREX1)
ENST00000625293.1:c.721C= (TREX1)	ENSP00000486676.1:p.Leu241=
ENST00000629913.1:c.556C= (TREX1)	ENSP00000486444.1:p.Leu186=
ENST00000634384.1:c.*3376C=	ENSP00000489041.1:n.*3376C=
ENST00000635452.1:n.1763C=
ENST00000635464.1:c.3509C=	ENSP00000489199.1:n.3509C=
NM_007248.3:c.526C= (TREX1)	NP_009179.2:p.Leu176=
NM_016381.5:c.721C= (TREX1)	NP_057465.1:p.Leu241=
NM_033629.4:c.556C= (TREX1)	NP_338599.1:p.Leu186=
NM_007248.4:c.526C= (TREX1)	NP_009179.2:p.Leu176=
NM_033629.5:c.556C= (TREX1)	NP_338599.1:p.Leu186=
NR_153405.1:n.3865C=
NM_033629.6:c.556C= (TREX1) MANE Select	NP_338599.1:p.Leu186=
NM_130384.3:c.*1657C= (ATRIP) MANE Select	NP_569055.1:n.*1657C=
NM_001271023.2:c.*1657C= (ATRIP)	NP_001257952.1:n.*1657C=
NM_007248.5:c.526C= (TREX1)	NP_009179.2:p.Leu176=
NM_032166.4:c.*1657C= (ATRIP)	NP_115542.2:n.*1657C=
NM_001271022.2:c.*1657C= (ATRIP)	NP_001257951.1:n.*1657C=