Canonical Allele Identifier: CA352620385
Gene: ATRIP HGNC NCBI
TREX1 HGNC NCBI

Linked Data

dbSNP Id: rs1265570241
gnomAD v2: 3-48508988-C-A
gnomAD v4: 3-48467589-C-A
MyVariant Identifiers: chr3:g.48508988C>A (hg19) chr3:g.48467589C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467589C>A , CM000665.2:g.48467589C>A GRCh38
NC_000003.11:g.48508988C>A , CM000665.1:g.48508988C>A GRCh37
NC_000003.10:g.48483992C>A NCBI36
NG_009820.1:g.6760C>A
NG_033100.1:g.38272G>T
NG_041782.1:g.25880C>A
NG_009820.2:g.6760C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*2035C>A (ATRIP) MANE Select ENSP00000323099.3:n.*2035C>A
ENST00000492235.2:c.517C>A (TREX1) ENSP00000494511.1:p.Pro173Thr
ENST00000625293.3:c.934C>A (TREX1) MANE Select ENSP00000486676.2:p.Pro312Thr
ENST00000634384.2:c.3529C>A (ATRIP)
ENST00000635452.2:c.517C>A (TREX1) ENSP00000492023.2:p.Pro173Thr
ENST00000296443.11:c.934C>A ENSP00000296443.11:p.Pro312Thr
ENST00000433541.1:c.517C>A (TREX1) ENSP00000412404.1:p.Pro173Thr
ENST00000444177.1:c.904C>A (TREX1) ENSP00000415972.1:p.Pro302Thr
ENST00000456089.1:c.517C>A (TREX1) ENSP00000411331.1:p.Pro173Thr
ENST00000625293.1:c.1099C>A (TREX1) ENSP00000486676.1:p.Pro367Thr
ENST00000629913.1:c.934C>A (TREX1) ENSP00000486444.1:p.Pro312Thr
ENST00000634384.1:c.*3754C>A ENSP00000489041.1:n.*3754C>A
ENST00000635452.1:n.2141C>A
ENST00000635464.1:c.3887C>A ENSP00000489199.1:n.3887C>A
NM_007248.3:c.904C>A (TREX1) NP_009179.2:p.Pro302Thr
NM_016381.5:c.1099C>A (TREX1) NP_057465.1:p.Pro367Thr
NM_033629.4:c.934C>A (TREX1) NP_338599.1:p.Pro312Thr
NM_007248.4:c.904C>A (TREX1) NP_009179.2:p.Pro302Thr
NM_033629.5:c.934C>A (TREX1) NP_338599.1:p.Pro312Thr
NR_153405.1:n.4243C>A
NM_033629.6:c.934C>A (TREX1) MANE Select NP_338599.1:p.Pro312Thr
NM_130384.3:c.*2035C>A (ATRIP) MANE Select NP_569055.1:n.*2035C>A
NM_001271023.2:c.*2035C>A (ATRIP) NP_001257952.1:n.*2035C>A
NM_007248.5:c.904C>A (TREX1) NP_009179.2:p.Pro302Thr
NM_032166.4:c.*2035C>A (ATRIP) NP_115542.2:n.*2035C>A
NM_001271022.2:c.*2035C>A (ATRIP) NP_001257951.1:n.*2035C>A
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