Canonical Allele Identifier: CA1363031480

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467644T= , CM000665.2:g.48467644T= GRCh38
NC_000003.11:g.48509043T= , CM000665.1:g.48509043T= GRCh37
NC_000003.10:g.48484047T= NCBI36
NG_009820.1:g.6815T=
NG_033100.1:g.38217A=
NG_041782.1:g.25935T=
NG_009820.2:g.6815T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*2090T= (ATRIP) MANE Select ENSP00000323099.3:n.*2090T=
ENST00000625293.3:c.*44T= (TREX1) MANE Select ENSP00000486676.2:n.*44T=
ENST00000634384.2:c.3584T= (ATRIP)
ENST00000635452.2:c.*44T= (TREX1) ENSP00000492023.2:n.*44T=
ENST00000433541.1:c.*44T= (TREX1) ENSP00000412404.1:n.*44T=
ENST00000456089.1:c.*44T= (TREX1) ENSP00000411331.1:n.*44T=
ENST00000625293.1:c.*44T= (TREX1) ENSP00000486676.1:n.*44T=
ENST00000634384.1:c.*3809T= ENSP00000489041.1:n.*3809T=
ENST00000635452.1:n.2196T=
ENST00000635464.1:c.3942T= ENSP00000489199.1:n.3942T=
NM_007248.3:c.*44T= (TREX1) NP_009179.2:n.*44T=
NM_016381.5:c.*44T= (TREX1) NP_057465.1:n.*44T=
NM_033629.4:c.*44T= (TREX1) NP_338599.1:n.*44T=
NM_007248.4:c.*44T= (TREX1) NP_009179.2:n.*44T=
NM_033629.5:c.*44T= (TREX1) NP_338599.1:n.*44T=
NR_153405.1:n.4298T=
NM_033629.6:c.*44T= (TREX1) MANE Select NP_338599.1:n.*44T=
NM_130384.3:c.*2090T= (ATRIP) MANE Select NP_569055.1:n.*2090T=
NM_001271023.2:c.*2090T= (ATRIP) NP_001257952.1:n.*2090T=
NM_007248.5:c.*44T= (TREX1) NP_009179.2:n.*44T=
NM_032166.4:c.*2090T= (ATRIP) NP_115542.2:n.*2090T=
NM_001271022.2:c.*2090T= (ATRIP) NP_001257951.1:n.*2090T=