Canonical Allele Identifier: CA73932620

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466837C>A , CM000665.2:g.48466837C>A	GRCh38
NC_000003.11:g.48508236C>A , CM000665.1:g.48508236C>A	GRCh37
NC_000003.10:g.48483240C>A	NCBI36
NG_009820.1:g.6008C>A
NG_033100.1:g.39024G>T
NG_041782.1:g.25128C>A
NG_009820.2:g.6008C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033629.6:c.182C>A (TREX1) MANE Select	NP_338599.1:p.Pro61Gln
NM_130384.3:c.*1283C>A (ATRIP) MANE Select	NP_569055.1:n.*1283C>A
ENST00000320211.10:c.*1283C>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1283C>A
ENST00000625293.3:c.182C>A (TREX1) MANE Select	ENSP00000486676.2:p.Pro61Gln
NM_001271022.2:c.*1283C>A (ATRIP)	NP_001257951.1:n.*1283C>A
NM_001271023.2:c.*1283C>A (ATRIP)	NP_001257952.1:n.*1283C>A
NM_007248.3:c.152C>A (TREX1)	NP_009179.2:p.Pro51Gln
NM_007248.4:c.152C>A (TREX1)	NP_009179.2:p.Pro51Gln
NM_007248.5:c.152C>A (TREX1)	NP_009179.2:p.Pro51Gln
NM_016381.5:c.347C>A (TREX1)	NP_057465.1:p.Pro116Gln
NM_032166.4:c.*1283C>A (ATRIP)	NP_115542.2:n.*1283C>A
NM_033629.4:c.182C>A (TREX1)	NP_338599.1:p.Pro61Gln
NM_033629.5:c.182C>A (TREX1)	NP_338599.1:p.Pro61Gln
NR_153405.1:n.3491C>A
ENST00000296443.11:c.182C>A	ENSP00000296443.11:p.Pro61Gln
ENST00000433541.1:c.-236C>A (TREX1)	ENSP00000412404.1:n.-236C>A
ENST00000444177.1:c.152C>A (TREX1)	ENSP00000415972.1:p.Pro51Gln
ENST00000456089.1:c.-8-228C>A (TREX1)	ENSP00000411331.1:n.-8-228C>A
ENST00000492235.1:n.100C>A (TREX1)
ENST00000492235.2:c.-236C>A (TREX1)	ENSP00000494511.1:n.-236C>A
ENST00000625293.1:c.347C>A (TREX1)	ENSP00000486676.1:p.Pro116Gln
ENST00000629913.1:c.182C>A (TREX1)	ENSP00000486444.1:p.Pro61Gln
ENST00000634384.1:c.*3002C>A	ENSP00000489041.1:n.*3002C>A
ENST00000634384.2:c.2777C>A (ATRIP)
ENST00000635452.1:n.1389C>A
ENST00000635452.2:c.-236C>A (TREX1)	ENSP00000492023.2:n.-236C>A
ENST00000635464.1:c.3135C>A	ENSP00000489199.1:n.3135C>A