Canonical Allele Identifier: CA352618308

Linked Data

ClinVar Variation Id: 2921321
ClinVar RCV Id: RCV003779408

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467158C>T , CM000665.2:g.48467158C>T GRCh38
NC_000003.11:g.48508557C>T , CM000665.1:g.48508557C>T GRCh37
NC_000003.10:g.48483561C>T NCBI36
NG_009820.1:g.6329C>T
NG_033100.1:g.38703G>A
NG_041782.1:g.25449C>T
NG_009820.2:g.6329C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1604C>T (ATRIP) MANE Select ENSP00000323099.3:n.*1604C>T
ENST00000492235.2:c.86C>T (TREX1) ENSP00000494511.1:p.Pro29Leu
ENST00000625293.3:c.503C>T (TREX1) MANE Select ENSP00000486676.2:p.Pro168Leu
ENST00000634384.2:c.3098C>T (ATRIP)
ENST00000635452.2:c.86C>T (TREX1) ENSP00000492023.2:p.Pro29Leu
ENST00000296443.11:c.503C>T ENSP00000296443.11:p.Pro168Leu
ENST00000433541.1:c.86C>T (TREX1) ENSP00000412404.1:p.Pro29Leu
ENST00000444177.1:c.473C>T (TREX1) ENSP00000415972.1:p.Pro158Leu
ENST00000456089.1:c.86C>T (TREX1) ENSP00000411331.1:p.Pro29Leu
ENST00000492235.1:n.421C>T (TREX1)
ENST00000625293.1:c.668C>T (TREX1) ENSP00000486676.1:p.Pro223Leu
ENST00000629913.1:c.503C>T (TREX1) ENSP00000486444.1:p.Pro168Leu
ENST00000634384.1:c.*3323C>T ENSP00000489041.1:n.*3323C>T
ENST00000635452.1:n.1710C>T
ENST00000635464.1:c.3456C>T ENSP00000489199.1:n.3456C>T
NM_007248.3:c.473C>T (TREX1) NP_009179.2:p.Pro158Leu
NM_016381.5:c.668C>T (TREX1) NP_057465.1:p.Pro223Leu
NM_033629.4:c.503C>T (TREX1) NP_338599.1:p.Pro168Leu
NM_007248.4:c.473C>T (TREX1) NP_009179.2:p.Pro158Leu
NM_033629.5:c.503C>T (TREX1) NP_338599.1:p.Pro168Leu
NR_153405.1:n.3812C>T
NM_033629.6:c.503C>T (TREX1) MANE Select NP_338599.1:p.Pro168Leu
NM_130384.3:c.*1604C>T (ATRIP) MANE Select NP_569055.1:n.*1604C>T
NM_001271023.2:c.*1604C>T (ATRIP) NP_001257952.1:n.*1604C>T
NM_007248.5:c.473C>T (TREX1) NP_009179.2:p.Pro158Leu
NM_032166.4:c.*1604C>T (ATRIP) NP_115542.2:n.*1604C>T
NM_001271022.2:c.*1604C>T (ATRIP) NP_001257951.1:n.*1604C>T