Canonical Allele Identifier: CA1363030964

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48466716G= , CM000665.2:g.48466716G= GRCh38
NC_000003.11:g.48508115G= , CM000665.1:g.48508115G= GRCh37
NC_000003.10:g.48483119G= NCBI36
NG_009820.1:g.5887G=
NG_033100.1:g.39145C=
NG_041782.1:g.25007G=
NG_009820.2:g.5887G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1162G= (ATRIP) MANE Select ENSP00000323099.3:n.*1162G=
ENST00000492235.2:c.-295-62G= (TREX1) ENSP00000494511.1:n.-295-62G=
ENST00000625293.3:c.61G= (TREX1) MANE Select ENSP00000486676.2:p.Ala21=
ENST00000634384.2:c.2656G= (ATRIP)
ENST00000635452.2:c.-333-24G= (TREX1) ENSP00000492023.2:n.-333-24G=
ENST00000296443.11:c.61G= ENSP00000296443.11:p.Ala21=
ENST00000433541.1:c.-333-24G= (TREX1) ENSP00000412404.1:n.-333-24G=
ENST00000444177.1:c.31G= (TREX1) ENSP00000415972.1:p.Ala11=
ENST00000456089.1:c.-8-349G= (TREX1) ENSP00000411331.1:n.-8-349G=
ENST00000492235.1:n.41-62G= (TREX1)
ENST00000625293.1:c.226G= (TREX1) ENSP00000486676.1:p.Ala76=
ENST00000629913.1:c.61G= (TREX1) ENSP00000486444.1:p.Ala21=
ENST00000634384.1:c.*2881G= ENSP00000489041.1:n.*2881G=
ENST00000635452.1:n.1268G=
ENST00000635464.1:c.3014G= ENSP00000489199.1:n.3014G=
NM_007248.3:c.31G= (TREX1) NP_009179.2:p.Ala11=
NM_016381.5:c.226G= (TREX1) NP_057465.1:p.Ala76=
NM_033629.4:c.61G= (TREX1) NP_338599.1:p.Ala21=
NM_007248.4:c.31G= (TREX1) NP_009179.2:p.Ala11=
NM_033629.5:c.61G= (TREX1) NP_338599.1:p.Ala21=
NR_153405.1:n.3370G=
NM_033629.6:c.61G= (TREX1) MANE Select NP_338599.1:p.Ala21=
NM_130384.3:c.*1162G= (ATRIP) MANE Select NP_569055.1:n.*1162G=
NM_001271023.2:c.*1162G= (ATRIP) NP_001257952.1:n.*1162G=
NM_007248.5:c.31G= (TREX1) NP_009179.2:p.Ala11=
NM_032166.4:c.*1162G= (ATRIP) NP_115542.2:n.*1162G=
NM_001271022.2:c.*1162G= (ATRIP) NP_001257951.1:n.*1162G=