Canonical Allele Identifier: CA352619315

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467391T>C , CM000665.2:g.48467391T>C	GRCh38
NC_000003.11:g.48508790T>C , CM000665.1:g.48508790T>C	GRCh37
NC_000003.10:g.48483794T>C	NCBI36
NG_009820.1:g.6562T>C
NG_033100.1:g.38470A>G
NG_041782.1:g.25682T>C
NG_009820.2:g.6562T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033629.6:c.736T>C (TREX1) MANE Select	NP_338599.1:p.Ser246Pro
NM_130384.3:c.*1837T>C (ATRIP) MANE Select	NP_569055.1:n.*1837T>C
ENST00000320211.10:c.*1837T>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1837T>C
ENST00000625293.3:c.736T>C (TREX1) MANE Select	ENSP00000486676.2:p.Ser246Pro
NM_001271022.2:c.*1837T>C (ATRIP)	NP_001257951.1:n.*1837T>C
NM_001271023.2:c.*1837T>C (ATRIP)	NP_001257952.1:n.*1837T>C
NM_007248.3:c.706T>C (TREX1)	NP_009179.2:p.Ser236Pro
NM_007248.4:c.706T>C (TREX1)	NP_009179.2:p.Ser236Pro
NM_007248.5:c.706T>C (TREX1)	NP_009179.2:p.Ser236Pro
NM_016381.5:c.901T>C (TREX1)	NP_057465.1:p.Ser301Pro
NM_032166.4:c.*1837T>C (ATRIP)	NP_115542.2:n.*1837T>C
NM_033629.4:c.736T>C (TREX1)	NP_338599.1:p.Ser246Pro
NM_033629.5:c.736T>C (TREX1)	NP_338599.1:p.Ser246Pro
NR_153405.1:n.4045T>C
ENST00000296443.11:c.736T>C	ENSP00000296443.11:p.Ser246Pro
ENST00000433541.1:c.319T>C (TREX1)	ENSP00000412404.1:p.Ser107Pro
ENST00000444177.1:c.706T>C (TREX1)	ENSP00000415972.1:p.Ser236Pro
ENST00000456089.1:c.319T>C (TREX1)	ENSP00000411331.1:p.Ser107Pro
ENST00000492235.1:n.654T>C (TREX1)
ENST00000492235.2:c.319T>C (TREX1)	ENSP00000494511.1:p.Ser107Pro
ENST00000625293.1:c.901T>C (TREX1)	ENSP00000486676.1:p.Ser301Pro
ENST00000629913.1:c.736T>C (TREX1)	ENSP00000486444.1:p.Ser246Pro
ENST00000634384.1:c.*3556T>C	ENSP00000489041.1:n.*3556T>C
ENST00000634384.2:c.3331T>C (ATRIP)
ENST00000635452.1:n.1943T>C
ENST00000635452.2:c.319T>C (TREX1)	ENSP00000492023.2:p.Ser107Pro
ENST00000635464.1:c.3689T>C	ENSP00000489199.1:n.3689T>C