Canonical Allele Identifier: CA433616062
Community Standard Title: NM_033629.6(TREX1):c.324C>T (p.Leu108=)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48466979C>T , CM000665.2:g.48466979C>T GRCh38
NC_000003.11:g.48508378C>T , CM000665.1:g.48508378C>T GRCh37
NC_000003.10:g.48483382C>T NCBI36
NG_009820.1:g.6150C>T
NG_033100.1:g.38882G>A
NG_041782.1:g.25270C>T
NG_009820.2:g.6150C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033629.6:c.324C>T (TREX1) MANE Select NP_338599.1:p.Leu108=
NM_130384.3:c.*1425C>T (ATRIP) MANE Select NP_569055.1:n.*1425C>T
ENST00000320211.10:c.*1425C>T (ATRIP) MANE Select ENSP00000323099.3:n.*1425C>T
ENST00000625293.3:c.324C>T (TREX1) MANE Select ENSP00000486676.2:p.Leu108=
NM_001271022.2:c.*1425C>T (ATRIP) NP_001257951.1:n.*1425C>T
NM_001271023.2:c.*1425C>T (ATRIP) NP_001257952.1:n.*1425C>T
NM_007248.3:c.294C>T (TREX1) NP_009179.2:p.Leu98=
NM_007248.4:c.294C>T (TREX1) NP_009179.2:p.Leu98=
NM_007248.5:c.294C>T (TREX1) NP_009179.2:p.Leu98=
NM_016381.5:c.489C>T (TREX1) NP_057465.1:p.Leu163=
NM_032166.4:c.*1425C>T (ATRIP) NP_115542.2:n.*1425C>T
NM_033629.4:c.324C>T (TREX1) NP_338599.1:p.Leu108=
NM_033629.5:c.324C>T (TREX1) NP_338599.1:p.Leu108=
NR_153405.1:n.3633C>T
ENST00000296443.11:c.324C>T ENSP00000296443.11:p.Leu108=
ENST00000433541.1:c.-94C>T (TREX1) ENSP00000412404.1:n.-94C>T
ENST00000444177.1:c.294C>T (TREX1) ENSP00000415972.1:p.Leu98=
ENST00000456089.1:c.-8-86C>T (TREX1) ENSP00000411331.1:n.-8-86C>T
ENST00000492235.1:n.242C>T (TREX1)
ENST00000492235.2:c.-94C>T (TREX1) ENSP00000494511.1:n.-94C>T
ENST00000625293.1:c.489C>T (TREX1) ENSP00000486676.1:p.Leu163=
ENST00000629913.1:c.324C>T (TREX1) ENSP00000486444.1:p.Leu108=
ENST00000634384.1:c.*3144C>T ENSP00000489041.1:n.*3144C>T
ENST00000634384.2:c.2919C>T (ATRIP)
ENST00000635452.1:n.1531C>T
ENST00000635452.2:c.-94C>T (TREX1) ENSP00000492023.2:n.-94C>T
ENST00000635464.1:c.3277C>T ENSP00000489199.1:n.3277C>T