Canonical Allele Identifier: CA1363031366

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467438T= , CM000665.2:g.48467438T= GRCh38
NC_000003.11:g.48508837T= , CM000665.1:g.48508837T= GRCh37
NC_000003.10:g.48483841T= NCBI36
NG_009820.1:g.6609T=
NG_033100.1:g.38423A=
NG_041782.1:g.25729T=
NG_009820.2:g.6609T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1884T= (ATRIP) MANE Select ENSP00000323099.3:n.*1884T=
ENST00000492235.2:c.366T= (TREX1) ENSP00000494511.1:p.Ser122=
ENST00000625293.3:c.783T= (TREX1) MANE Select ENSP00000486676.2:p.Ser261=
ENST00000634384.2:c.3378T= (ATRIP)
ENST00000635452.2:c.366T= (TREX1) ENSP00000492023.2:p.Ser122=
ENST00000296443.11:c.783T= ENSP00000296443.11:p.Ser261=
ENST00000433541.1:c.366T= (TREX1) ENSP00000412404.1:p.Ser122=
ENST00000444177.1:c.753T= (TREX1) ENSP00000415972.1:p.Ser251=
ENST00000456089.1:c.366T= (TREX1) ENSP00000411331.1:p.Ser122=
ENST00000625293.1:c.948T= (TREX1) ENSP00000486676.1:p.Ser316=
ENST00000629913.1:c.783T= (TREX1) ENSP00000486444.1:p.Ser261=
ENST00000634384.1:c.*3603T= ENSP00000489041.1:n.*3603T=
ENST00000635452.1:n.1990T=
ENST00000635464.1:c.3736T= ENSP00000489199.1:n.3736T=
NM_007248.3:c.753T= (TREX1) NP_009179.2:p.Ser251=
NM_016381.5:c.948T= (TREX1) NP_057465.1:p.Ser316=
NM_033629.4:c.783T= (TREX1) NP_338599.1:p.Ser261=
NM_007248.4:c.753T= (TREX1) NP_009179.2:p.Ser251=
NM_033629.5:c.783T= (TREX1) NP_338599.1:p.Ser261=
NR_153405.1:n.4092T=
NM_033629.6:c.783T= (TREX1) MANE Select NP_338599.1:p.Ser261=
NM_130384.3:c.*1884T= (ATRIP) MANE Select NP_569055.1:n.*1884T=
NM_001271023.2:c.*1884T= (ATRIP) NP_001257952.1:n.*1884T=
NM_007248.5:c.753T= (TREX1) NP_009179.2:p.Ser251=
NM_032166.4:c.*1884T= (ATRIP) NP_115542.2:n.*1884T=
NM_001271022.2:c.*1884T= (ATRIP) NP_001257951.1:n.*1884T=