Canonical Allele Identifier: CA2376532
Community Standard Title: NM_033629.6(TREX1):c.-26-1G>A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48466629G>A , CM000665.2:g.48466629G>A GRCh38
NC_000003.11:g.48508028G>A , CM000665.1:g.48508028G>A GRCh37
NC_000003.10:g.48483032G>A NCBI36
NG_009820.1:g.5800G>A
NG_033100.1:g.39232C>T
NG_041782.1:g.24920G>A
NG_009820.2:g.5800G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033629.6:c.-26-1G>A (TREX1) MANE Select NP_338599.1:n.-26-1G>A
NM_130384.3:c.*1075G>A (ATRIP) MANE Select NP_569055.1:n.*1075G>A
ENST00000320211.10:c.*1075G>A (ATRIP) MANE Select ENSP00000323099.3:n.*1075G>A
ENST00000625293.3:c.-26-1G>A (TREX1) MANE Select ENSP00000486676.2:n.-26-1G>A
NM_001271022.2:c.*1075G>A (ATRIP) NP_001257951.1:n.*1075G>A
NM_001271023.2:c.*1075G>A (ATRIP) NP_001257952.1:n.*1075G>A
NM_007248.3:c.-18-39G>A (TREX1) NP_009179.2:n.-18-39G>A
NM_007248.4:c.-18-39G>A (TREX1) NP_009179.2:n.-18-39G>A
NM_007248.5:c.-18-39G>A (TREX1) NP_009179.2:n.-18-39G>A
NM_016381.5:c.139G>A (TREX1) NP_057465.1:p.Gly47Ser
NM_032166.4:c.*1075G>A (ATRIP) NP_115542.2:n.*1075G>A
NM_033629.4:c.-26-1G>A (TREX1) NP_338599.1:n.-26-1G>A
NM_033629.5:c.-26-1G>A (TREX1) NP_338599.1:n.-26-1G>A
NR_153405.1:n.3284-1G>A
ENST00000296443.11:c.-26-1G>A ENSP00000296443.11:n.-26-1G>A
ENST00000433541.1:c.-345-1G>A (TREX1) ENSP00000412404.1:n.-345-1G>A
ENST00000444177.1:c.-18-39G>A (TREX1) ENSP00000415972.1:n.-18-39G>A
ENST00000456089.1:c.-9+320G>A (TREX1) ENSP00000411331.1:n.-9+320G>A
ENST00000492235.1:n.41-149G>A (TREX1)
ENST00000492235.2:c.-295-149G>A (TREX1) ENSP00000494511.1:n.-295-149G>A
ENST00000625293.1:c.139G>A (TREX1) ENSP00000486676.1:p.Gly47Ser
ENST00000629913.1:c.-26-1G>A (TREX1) ENSP00000486444.1:n.-26-1G>A
ENST00000634384.1:c.*2795-1G>A ENSP00000489041.1:n.*2795-1G>A
ENST00000634384.2:c.2570-1G>A (ATRIP)
ENST00000635452.1:n.1181G>A
ENST00000635452.2:c.-333-111G>A (TREX1) ENSP00000492023.2:n.-333-111G>A
ENST00000635464.1:c.2928-1G>A ENSP00000489199.1:n.2928-1G>A