Canonical Allele Identifier: CA352618029

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467055C>A , CM000665.2:g.48467055C>A	GRCh38
NC_000003.11:g.48508454C>A , CM000665.1:g.48508454C>A	GRCh37
NC_000003.10:g.48483458C>A	NCBI36
NG_009820.1:g.6226C>A
NG_033100.1:g.38806G>T
NG_041782.1:g.25346C>A
NG_009820.2:g.6226C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033629.6:c.400C>A (TREX1) MANE Select	NP_338599.1:p.Leu134Ile
NM_130384.3:c.*1501C>A (ATRIP) MANE Select	NP_569055.1:n.*1501C>A
ENST00000320211.10:c.*1501C>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1501C>A
ENST00000625293.3:c.400C>A (TREX1) MANE Select	ENSP00000486676.2:p.Leu134Ile
NM_001271022.2:c.*1501C>A (ATRIP)	NP_001257951.1:n.*1501C>A
NM_001271023.2:c.*1501C>A (ATRIP)	NP_001257952.1:n.*1501C>A
NM_007248.3:c.370C>A (TREX1)	NP_009179.2:p.Leu124Ile
NM_007248.4:c.370C>A (TREX1)	NP_009179.2:p.Leu124Ile
NM_007248.5:c.370C>A (TREX1)	NP_009179.2:p.Leu124Ile
NM_016381.5:c.565C>A (TREX1)	NP_057465.1:p.Leu189Ile
NM_032166.4:c.*1501C>A (ATRIP)	NP_115542.2:n.*1501C>A
NM_033629.4:c.400C>A (TREX1)	NP_338599.1:p.Leu134Ile
NM_033629.5:c.400C>A (TREX1)	NP_338599.1:p.Leu134Ile
NR_153405.1:n.3709C>A
ENST00000296443.11:c.400C>A	ENSP00000296443.11:p.Leu134Ile
ENST00000433541.1:c.-18C>A (TREX1)	ENSP00000412404.1:n.-18C>A
ENST00000444177.1:c.370C>A (TREX1)	ENSP00000415972.1:p.Leu124Ile
ENST00000456089.1:c.-8-10C>A (TREX1)	ENSP00000411331.1:n.-8-10C>A
ENST00000492235.1:n.318C>A (TREX1)
ENST00000492235.2:c.-18C>A (TREX1)	ENSP00000494511.1:n.-18C>A
ENST00000625293.1:c.565C>A (TREX1)	ENSP00000486676.1:p.Leu189Ile
ENST00000629913.1:c.400C>A (TREX1)	ENSP00000486444.1:p.Leu134Ile
ENST00000634384.1:c.*3220C>A	ENSP00000489041.1:n.*3220C>A
ENST00000634384.2:c.2995C>A (ATRIP)
ENST00000635452.1:n.1607C>A
ENST00000635452.2:c.-18C>A (TREX1)	ENSP00000492023.2:n.-18C>A
ENST00000635464.1:c.3353C>A	ENSP00000489199.1:n.3353C>A