Canonical Allele Identifier: CA352616993

Gene: ATRIP TREX1

Linked Data

• MyVariant Identifiers: chr3:g.48508106G>C (hg19) ; chr3:g.48466707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466707G>C , CM000665.2:g.48466707G>C	GRCh38
NC_000003.11:g.48508106G>C , CM000665.1:g.48508106G>C	GRCh37
NC_000003.10:g.48483110G>C	NCBI36
NG_009820.1:g.5878G>C
NG_033100.1:g.39154C>G
NG_041782.1:g.24998G>C
NG_009820.2:g.5878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1153G>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1153G>C
ENST00000492235.2:c.-295-71G>C (TREX1)	ENSP00000494511.1:n.-295-71G>C
ENST00000625293.3:c.52G>C (TREX1) MANE Select	ENSP00000486676.2:p.Asp18His
ENST00000634384.2:c.2647G>C (ATRIP)
ENST00000635452.2:c.-333-33G>C (TREX1)	ENSP00000492023.2:n.-333-33G>C
ENST00000296443.11:c.52G>C	ENSP00000296443.11:p.Asp18His
ENST00000433541.1:c.-333-33G>C (TREX1)	ENSP00000412404.1:n.-333-33G>C
ENST00000444177.1:c.22G>C (TREX1)	ENSP00000415972.1:p.Asp8His
ENST00000456089.1:c.-8-358G>C (TREX1)	ENSP00000411331.1:n.-8-358G>C
ENST00000492235.1:n.41-71G>C (TREX1)
ENST00000625293.1:c.217G>C (TREX1)	ENSP00000486676.1:p.Asp73His
ENST00000629913.1:c.52G>C (TREX1)	ENSP00000486444.1:p.Asp18His
ENST00000634384.1:c.*2872G>C	ENSP00000489041.1:n.*2872G>C
ENST00000635452.1:n.1259G>C
ENST00000635464.1:c.3005G>C	ENSP00000489199.1:n.3005G>C
NM_007248.3:c.22G>C (TREX1)	NP_009179.2:p.Asp8His
NM_016381.5:c.217G>C (TREX1)	NP_057465.1:p.Asp73His
NM_033629.4:c.52G>C (TREX1)	NP_338599.1:p.Asp18His
NM_007248.4:c.22G>C (TREX1)	NP_009179.2:p.Asp8His
NM_033629.5:c.52G>C (TREX1)	NP_338599.1:p.Asp18His
NR_153405.1:n.3361G>C
NM_033629.6:c.52G>C (TREX1) MANE Select	NP_338599.1:p.Asp18His
NM_130384.3:c.*1153G>C (ATRIP) MANE Select	NP_569055.1:n.*1153G>C
NM_001271023.2:c.*1153G>C (ATRIP)	NP_001257952.1:n.*1153G>C
NM_007248.5:c.22G>C (TREX1)	NP_009179.2:p.Asp8His
NM_032166.4:c.*1153G>C (ATRIP)	NP_115542.2:n.*1153G>C
NM_001271022.2:c.*1153G>C (ATRIP)	NP_001257951.1:n.*1153G>C