Canonical Allele Identifier: CA1363031211

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467169G= , CM000665.2:g.48467169G= GRCh38
NC_000003.11:g.48508568G= , CM000665.1:g.48508568G= GRCh37
NC_000003.10:g.48483572G= NCBI36
NG_009820.1:g.6340G=
NG_033100.1:g.38692C=
NG_041782.1:g.25460G=
NG_009820.2:g.6340G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1615G= (ATRIP) MANE Select ENSP00000323099.3:n.*1615G=
ENST00000492235.2:c.97G= (TREX1) ENSP00000494511.1:p.Gly33=
ENST00000625293.3:c.514G= (TREX1) MANE Select ENSP00000486676.2:p.Gly172=
ENST00000634384.2:c.3109G= (ATRIP)
ENST00000635452.2:c.97G= (TREX1) ENSP00000492023.2:p.Gly33=
ENST00000296443.11:c.514G= ENSP00000296443.11:p.Gly172=
ENST00000433541.1:c.97G= (TREX1) ENSP00000412404.1:p.Gly33=
ENST00000444177.1:c.484G= (TREX1) ENSP00000415972.1:p.Gly162=
ENST00000456089.1:c.97G= (TREX1) ENSP00000411331.1:p.Gly33=
ENST00000492235.1:n.432G= (TREX1)
ENST00000625293.1:c.679G= (TREX1) ENSP00000486676.1:p.Gly227=
ENST00000629913.1:c.514G= (TREX1) ENSP00000486444.1:p.Gly172=
ENST00000634384.1:c.*3334G= ENSP00000489041.1:n.*3334G=
ENST00000635452.1:n.1721G=
ENST00000635464.1:c.3467G= ENSP00000489199.1:n.3467G=
NM_007248.3:c.484G= (TREX1) NP_009179.2:p.Gly162=
NM_016381.5:c.679G= (TREX1) NP_057465.1:p.Gly227=
NM_033629.4:c.514G= (TREX1) NP_338599.1:p.Gly172=
NM_007248.4:c.484G= (TREX1) NP_009179.2:p.Gly162=
NM_033629.5:c.514G= (TREX1) NP_338599.1:p.Gly172=
NR_153405.1:n.3823G=
NM_033629.6:c.514G= (TREX1) MANE Select NP_338599.1:p.Gly172=
NM_130384.3:c.*1615G= (ATRIP) MANE Select NP_569055.1:n.*1615G=
NM_001271023.2:c.*1615G= (ATRIP) NP_001257952.1:n.*1615G=
NM_007248.5:c.484G= (TREX1) NP_009179.2:p.Gly162=
NM_032166.4:c.*1615G= (ATRIP) NP_115542.2:n.*1615G=
NM_001271022.2:c.*1615G= (ATRIP) NP_001257951.1:n.*1615G=