Canonical Allele Identifier: CA1363031466

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467630C= , CM000665.2:g.48467630C= GRCh38
NC_000003.11:g.48509029C= , CM000665.1:g.48509029C= GRCh37
NC_000003.10:g.48484033C= NCBI36
NG_009820.1:g.6801C=
NG_033100.1:g.38231G=
NG_041782.1:g.25921C=
NG_009820.2:g.6801C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*2076C= (ATRIP) MANE Select ENSP00000323099.3:n.*2076C=
ENST00000492235.2:c.*30C= (TREX1) ENSP00000494511.1:n.*30C=
ENST00000625293.3:c.*30C= (TREX1) MANE Select ENSP00000486676.2:n.*30C=
ENST00000634384.2:c.3570C= (ATRIP)
ENST00000635452.2:c.*30C= (TREX1) ENSP00000492023.2:n.*30C=
ENST00000296443.11:c.*30C= ENSP00000296443.11:n.*30C=
ENST00000433541.1:c.*30C= (TREX1) ENSP00000412404.1:n.*30C=
ENST00000444177.1:c.*30C= (TREX1) ENSP00000415972.1:n.*30C=
ENST00000456089.1:c.*30C= (TREX1) ENSP00000411331.1:n.*30C=
ENST00000625293.1:c.*30C= (TREX1) ENSP00000486676.1:n.*30C=
ENST00000634384.1:c.*3795C= ENSP00000489041.1:n.*3795C=
ENST00000635452.1:n.2182C=
ENST00000635464.1:c.3928C= ENSP00000489199.1:n.3928C=
NM_007248.3:c.*30C= (TREX1) NP_009179.2:n.*30C=
NM_016381.5:c.*30C= (TREX1) NP_057465.1:n.*30C=
NM_033629.4:c.*30C= (TREX1) NP_338599.1:n.*30C=
NM_007248.4:c.*30C= (TREX1) NP_009179.2:n.*30C=
NM_033629.5:c.*30C= (TREX1) NP_338599.1:n.*30C=
NR_153405.1:n.4284C=
NM_033629.6:c.*30C= (TREX1) MANE Select NP_338599.1:n.*30C=
NM_130384.3:c.*2076C= (ATRIP) MANE Select NP_569055.1:n.*2076C=
NM_001271023.2:c.*2076C= (ATRIP) NP_001257952.1:n.*2076C=
NM_007248.5:c.*30C= (TREX1) NP_009179.2:n.*30C=
NM_032166.4:c.*2076C= (ATRIP) NP_115542.2:n.*2076C=
NM_001271022.2:c.*2076C= (ATRIP) NP_001257951.1:n.*2076C=