Canonical Allele Identifier: CA10581390

Linked Data

ClinVar Variation Id: 235656
ClinVar RCV Id: RCV000224613
dbSNP Id: rs878853087
gnomAD v2: 3-48508454-C-T
gnomAD v3: 3-48467055-C-T
gnomAD v4: 3-48467055-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467055C>T , CM000665.2:g.48467055C>T GRCh38
NC_000003.11:g.48508454C>T , CM000665.1:g.48508454C>T GRCh37
NC_000003.10:g.48483458C>T NCBI36
NG_009820.1:g.6226C>T
NG_033100.1:g.38806G>A
NG_041782.1:g.25346C>T
NG_009820.2:g.6226C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*1501C>T (ATRIP) MANE Select ENSP00000323099.3:n.*1501C>T
ENST00000492235.2:c.-18C>T (TREX1) ENSP00000494511.1:n.-18C>T
ENST00000625293.3:c.400C>T (TREX1) MANE Select ENSP00000486676.2:p.Leu134Phe
ENST00000634384.2:c.2995C>T (ATRIP)
ENST00000635452.2:c.-18C>T (TREX1) ENSP00000492023.2:n.-18C>T
ENST00000296443.11:c.400C>T ENSP00000296443.11:p.Leu134Phe
ENST00000433541.1:c.-18C>T (TREX1) ENSP00000412404.1:n.-18C>T
ENST00000444177.1:c.370C>T (TREX1) ENSP00000415972.1:p.Leu124Phe
ENST00000456089.1:c.-8-10C>T (TREX1) ENSP00000411331.1:n.-8-10C>T
ENST00000492235.1:n.318C>T (TREX1)
ENST00000625293.1:c.565C>T (TREX1) ENSP00000486676.1:p.Leu189Phe
ENST00000629913.1:c.400C>T (TREX1) ENSP00000486444.1:p.Leu134Phe
ENST00000634384.1:c.*3220C>T ENSP00000489041.1:n.*3220C>T
ENST00000635452.1:n.1607C>T
ENST00000635464.1:c.3353C>T ENSP00000489199.1:n.3353C>T
NM_007248.3:c.370C>T (TREX1) NP_009179.2:p.Leu124Phe
NM_016381.5:c.565C>T (TREX1) NP_057465.1:p.Leu189Phe
NM_033629.4:c.400C>T (TREX1) NP_338599.1:p.Leu134Phe
NM_007248.4:c.370C>T (TREX1) NP_009179.2:p.Leu124Phe
NM_033629.5:c.400C>T (TREX1) NP_338599.1:p.Leu134Phe
NR_153405.1:n.3709C>T
NM_033629.6:c.400C>T (TREX1) MANE Select NP_338599.1:p.Leu134Phe
NM_130384.3:c.*1501C>T (ATRIP) MANE Select NP_569055.1:n.*1501C>T
NM_001271023.2:c.*1501C>T (ATRIP) NP_001257952.1:n.*1501C>T
NM_007248.5:c.370C>T (TREX1) NP_009179.2:p.Leu124Phe
NM_032166.4:c.*1501C>T (ATRIP) NP_115542.2:n.*1501C>T
NM_001271022.2:c.*1501C>T (ATRIP) NP_001257951.1:n.*1501C>T