Canonical Allele Identifier: CA1363031379

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467460G= , CM000665.2:g.48467460G= GRCh38
NC_000003.11:g.48508859G= , CM000665.1:g.48508859G= GRCh37
NC_000003.10:g.48483863G= NCBI36
NG_009820.1:g.6631G=
NG_033100.1:g.38401C=
NG_041782.1:g.25751G=
NG_009820.2:g.6631G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1906G= (ATRIP) MANE Select ENSP00000323099.3:n.*1906G=
ENST00000492235.2:c.388G= (TREX1) ENSP00000494511.1:p.Gly130=
ENST00000625293.3:c.805G= (TREX1) MANE Select ENSP00000486676.2:p.Gly269=
ENST00000634384.2:c.3400G= (ATRIP)
ENST00000635452.2:c.388G= (TREX1) ENSP00000492023.2:p.Gly130=
ENST00000296443.11:c.805G= ENSP00000296443.11:p.Gly269=
ENST00000433541.1:c.388G= (TREX1) ENSP00000412404.1:p.Gly130=
ENST00000444177.1:c.775G= (TREX1) ENSP00000415972.1:p.Gly259=
ENST00000456089.1:c.388G= (TREX1) ENSP00000411331.1:p.Gly130=
ENST00000625293.1:c.970G= (TREX1) ENSP00000486676.1:p.Gly324=
ENST00000629913.1:c.805G= (TREX1) ENSP00000486444.1:p.Gly269=
ENST00000634384.1:c.*3625G= ENSP00000489041.1:n.*3625G=
ENST00000635452.1:n.2012G=
ENST00000635464.1:c.3758G= ENSP00000489199.1:n.3758G=
NM_007248.3:c.775G= (TREX1) NP_009179.2:p.Gly259=
NM_016381.5:c.970G= (TREX1) NP_057465.1:p.Gly324=
NM_033629.4:c.805G= (TREX1) NP_338599.1:p.Gly269=
NM_007248.4:c.775G= (TREX1) NP_009179.2:p.Gly259=
NM_033629.5:c.805G= (TREX1) NP_338599.1:p.Gly269=
NR_153405.1:n.4114G=
NM_033629.6:c.805G= (TREX1) MANE Select NP_338599.1:p.Gly269=
NM_130384.3:c.*1906G= (ATRIP) MANE Select NP_569055.1:n.*1906G=
NM_001271023.2:c.*1906G= (ATRIP) NP_001257952.1:n.*1906G=
NM_007248.5:c.775G= (TREX1) NP_009179.2:p.Gly259=
NM_032166.4:c.*1906G= (ATRIP) NP_115542.2:n.*1906G=
NM_001271022.2:c.*1906G= (ATRIP) NP_001257951.1:n.*1906G=