Canonical Allele Identifier: CA2376596

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466852A>G , CM000665.2:g.48466852A>G	GRCh38
NC_000003.11:g.48508251A>G , CM000665.1:g.48508251A>G	GRCh37
NC_000003.10:g.48483255A>G	NCBI36
NG_009820.1:g.6023A>G
NG_033100.1:g.39009T>C
NG_041782.1:g.25143A>G
NG_009820.2:g.6023A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033629.6:c.197A>G (TREX1) MANE Select	NP_338599.1:p.Lys66Arg
NM_130384.3:c.*1298A>G (ATRIP) MANE Select	NP_569055.1:n.*1298A>G
ENST00000320211.10:c.*1298A>G (ATRIP) MANE Select	ENSP00000323099.3:n.*1298A>G
ENST00000625293.3:c.197A>G (TREX1) MANE Select	ENSP00000486676.2:p.Lys66Arg
NM_001271022.2:c.*1298A>G (ATRIP)	NP_001257951.1:n.*1298A>G
NM_001271023.2:c.*1298A>G (ATRIP)	NP_001257952.1:n.*1298A>G
NM_007248.3:c.167A>G (TREX1)	NP_009179.2:p.Lys56Arg
NM_007248.4:c.167A>G (TREX1)	NP_009179.2:p.Lys56Arg
NM_007248.5:c.167A>G (TREX1)	NP_009179.2:p.Lys56Arg
NM_016381.5:c.362A>G (TREX1)	NP_057465.1:p.Lys121Arg
NM_032166.4:c.*1298A>G (ATRIP)	NP_115542.2:n.*1298A>G
NM_033629.4:c.197A>G (TREX1)	NP_338599.1:p.Lys66Arg
NM_033629.5:c.197A>G (TREX1)	NP_338599.1:p.Lys66Arg
NR_153405.1:n.3506A>G
ENST00000296443.11:c.197A>G	ENSP00000296443.11:p.Lys66Arg
ENST00000433541.1:c.-221A>G (TREX1)	ENSP00000412404.1:n.-221A>G
ENST00000444177.1:c.167A>G (TREX1)	ENSP00000415972.1:p.Lys56Arg
ENST00000456089.1:c.-8-213A>G (TREX1)	ENSP00000411331.1:n.-8-213A>G
ENST00000492235.1:n.115A>G (TREX1)
ENST00000492235.2:c.-221A>G (TREX1)	ENSP00000494511.1:n.-221A>G
ENST00000625293.1:c.362A>G (TREX1)	ENSP00000486676.1:p.Lys121Arg
ENST00000629913.1:c.197A>G (TREX1)	ENSP00000486444.1:p.Lys66Arg
ENST00000634384.1:c.*3017A>G	ENSP00000489041.1:n.*3017A>G
ENST00000634384.2:c.2792A>G (ATRIP)
ENST00000635452.1:n.1404A>G
ENST00000635452.2:c.-221A>G (TREX1)	ENSP00000492023.2:n.-221A>G
ENST00000635464.1:c.3150A>G	ENSP00000489199.1:n.3150A>G