Canonical Allele Identifier: CA1363031204

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467159C= , CM000665.2:g.48467159C= GRCh38
NC_000003.11:g.48508558C= , CM000665.1:g.48508558C= GRCh37
NC_000003.10:g.48483562C= NCBI36
NG_009820.1:g.6330C=
NG_033100.1:g.38702G=
NG_041782.1:g.25450C=
NG_009820.2:g.6330C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1605C= (ATRIP) MANE Select ENSP00000323099.3:n.*1605C=
ENST00000492235.2:c.87C= (TREX1) ENSP00000494511.1:p.Pro29=
ENST00000625293.3:c.504C= (TREX1) MANE Select ENSP00000486676.2:p.Pro168=
ENST00000634384.2:c.3099C= (ATRIP)
ENST00000635452.2:c.87C= (TREX1) ENSP00000492023.2:p.Pro29=
ENST00000296443.11:c.504C= ENSP00000296443.11:p.Pro168=
ENST00000433541.1:c.87C= (TREX1) ENSP00000412404.1:p.Pro29=
ENST00000444177.1:c.474C= (TREX1) ENSP00000415972.1:p.Pro158=
ENST00000456089.1:c.87C= (TREX1) ENSP00000411331.1:p.Pro29=
ENST00000492235.1:n.422C= (TREX1)
ENST00000625293.1:c.669C= (TREX1) ENSP00000486676.1:p.Pro223=
ENST00000629913.1:c.504C= (TREX1) ENSP00000486444.1:p.Pro168=
ENST00000634384.1:c.*3324C= ENSP00000489041.1:n.*3324C=
ENST00000635452.1:n.1711C=
ENST00000635464.1:c.3457C= ENSP00000489199.1:n.3457C=
NM_007248.3:c.474C= (TREX1) NP_009179.2:p.Pro158=
NM_016381.5:c.669C= (TREX1) NP_057465.1:p.Pro223=
NM_033629.4:c.504C= (TREX1) NP_338599.1:p.Pro168=
NM_007248.4:c.474C= (TREX1) NP_009179.2:p.Pro158=
NM_033629.5:c.504C= (TREX1) NP_338599.1:p.Pro168=
NR_153405.1:n.3813C=
NM_033629.6:c.504C= (TREX1) MANE Select NP_338599.1:p.Pro168=
NM_130384.3:c.*1605C= (ATRIP) MANE Select NP_569055.1:n.*1605C=
NM_001271023.2:c.*1605C= (ATRIP) NP_001257952.1:n.*1605C=
NM_007248.5:c.474C= (TREX1) NP_009179.2:p.Pro158=
NM_032166.4:c.*1605C= (ATRIP) NP_115542.2:n.*1605C=
NM_001271022.2:c.*1605C= (ATRIP) NP_001257951.1:n.*1605C=