Canonical Allele Identifier: CA149385

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467186T= , CM000665.2:g.48467186T= GRCh38
NG_041782.1:g.25477T=
NG_009820.2:g.6357T=

Transcript Alleles

HGVS Amino-acid change
ENST00000320211.10:c.*1632T= (ATRIP) MANE Select ENSP00000323099.3:n.*1632T=
ENST00000492235.2:c.114T= (TREX1) ENSP00000494511.1:p.Tyr38=
ENST00000625293.3:c.531T= (TREX1) MANE Select ENSP00000486676.2:p.Tyr177=
ENST00000634384.2:c.3126T= (ATRIP)
ENST00000635452.2:c.114T= (TREX1) ENSP00000492023.2:p.Tyr38=
ENST00000296443.11:c.531T= ENSP00000296443.11:p.Tyr177=
ENST00000433541.1:c.114T= (TREX1) ENSP00000412404.1:p.Tyr38=
ENST00000444177.1:c.501T= (TREX1) ENSP00000415972.1:p.Tyr167=
ENST00000456089.1:c.114T= (TREX1) ENSP00000411331.1:p.Tyr38=
ENST00000492235.1:n.449T= (TREX1)
ENST00000625293.1:c.696T= (TREX1) ENSP00000486676.1:p.Tyr232=
ENST00000629913.1:c.531T= (TREX1) ENSP00000486444.1:p.Tyr177=
ENST00000634384.1:c.*3351T= ENSP00000489041.1:n.*3351T=
ENST00000635452.1:n.1738T=
ENST00000635464.1:c.3484T= ENSP00000489199.1:n.3484T=
NM_007248.3:c.501T= (TREX1) NP_009179.2:p.Tyr167=
NM_016381.5:c.696T= (TREX1) NP_057465.1:p.Tyr232=
NM_033629.4:c.531T= (TREX1) NP_338599.1:p.Tyr177=
NM_007248.4:c.501T= (TREX1) NP_009179.2:p.Tyr167=
NM_033629.5:c.531T= (TREX1) NP_338599.1:p.Tyr177=
NR_153405.1:n.3840T=
NM_033629.6:c.531T= (TREX1) MANE Select NP_338599.1:p.Tyr177=
NM_130384.3:c.*1632T= (ATRIP) MANE Select NP_569055.1:n.*1632T=
NM_001271023.2:c.*1632T= (ATRIP) NP_001257952.1:n.*1632T=
NM_007248.5:c.501T= (TREX1) NP_009179.2:p.Tyr167=
NM_032166.4:c.*1632T= (ATRIP) NP_115542.2:n.*1632T=
NM_001271022.2:c.*1632T= (ATRIP) NP_001257951.1:n.*1632T=