Canonical Allele Identifier: CA2581872533

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467637T>G , CM000665.2:g.48467637T>G GRCh38
NC_000003.11:g.48509036T>G , CM000665.1:g.48509036T>G GRCh37
NC_000003.10:g.48484040T>G NCBI36
NG_009820.1:g.6808T>G
NG_033100.1:g.38224A>C
NG_041782.1:g.25928T>G
NG_009820.2:g.6808T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*2083T>G (ATRIP) MANE Select ENSP00000323099.3:n.*2083T>G
ENST00000492235.2:c.*37T>G (TREX1) ENSP00000494511.1:n.*37T>G
ENST00000625293.3:c.*37T>G (TREX1) MANE Select ENSP00000486676.2:n.*37T>G
ENST00000634384.2:c.3577T>G (ATRIP)
ENST00000635452.2:c.*37T>G (TREX1) ENSP00000492023.2:n.*37T>G
ENST00000296443.11:c.*37T>G ENSP00000296443.11:n.*37T>G
ENST00000433541.1:c.*37T>G (TREX1) ENSP00000412404.1:n.*37T>G
ENST00000444177.1:c.*37T>G (TREX1) ENSP00000415972.1:n.*37T>G
ENST00000456089.1:c.*37T>G (TREX1) ENSP00000411331.1:n.*37T>G
ENST00000625293.1:c.*37T>G (TREX1) ENSP00000486676.1:n.*37T>G
ENST00000634384.1:c.*3802T>G ENSP00000489041.1:n.*3802T>G
ENST00000635452.1:n.2189T>G
ENST00000635464.1:c.3935T>G ENSP00000489199.1:n.3935T>G
NM_007248.3:c.*37T>G (TREX1) NP_009179.2:n.*37T>G
NM_016381.5:c.*37T>G (TREX1) NP_057465.1:n.*37T>G
NM_033629.4:c.*37T>G (TREX1) NP_338599.1:n.*37T>G
NM_007248.4:c.*37T>G (TREX1) NP_009179.2:n.*37T>G
NM_033629.5:c.*37T>G (TREX1) NP_338599.1:n.*37T>G
NR_153405.1:n.4291T>G
NM_033629.6:c.*37T>G (TREX1) MANE Select NP_338599.1:n.*37T>G
NM_130384.3:c.*2083T>G (ATRIP) MANE Select NP_569055.1:n.*2083T>G
NM_001271023.2:c.*2083T>G (ATRIP) NP_001257952.1:n.*2083T>G
NM_007248.5:c.*37T>G (TREX1) NP_009179.2:n.*37T>G
NM_032166.4:c.*2083T>G (ATRIP) NP_115542.2:n.*2083T>G
NM_001271022.2:c.*2083T>G (ATRIP) NP_001257951.1:n.*2083T>G