Canonical Allele Identifier: CA223859

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 96242
• ClinVar RCV Id: RCV000082325 ; RCV000262094 ; RCV000300719 ; RCV000431072 ; RCV001082165
• dbSNP Id: rs55999987
• ExAC: 3:48508851 A / G
• gnomAD v2: 3-48508851-A-G
• gnomAD v3: 3-48467452-A-G
• gnomAD v4: 3-48467452-A-G
• MyVariant Identifiers: chr3:g.48508851A>G (hg19) ; chr3:g.48467452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467452A>G , CM000665.2:g.48467452A>G	GRCh38
NC_000003.11:g.48508851A>G , CM000665.1:g.48508851A>G	GRCh37
NC_000003.10:g.48483855A>G	NCBI36
NG_009820.1:g.6623A>G
NG_033100.1:g.38409T>C
NG_041782.1:g.25743A>G
NG_009820.2:g.6623A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320211.10:c.*1898A>G (ATRIP) MANE Select	ENSP00000323099.3:n.*1898A>G
ENST00000492235.2:c.380A>G (TREX1)	ENSP00000494511.1:p.Glu127Gly
ENST00000625293.3:c.797A>G (TREX1) MANE Select	ENSP00000486676.2:p.Glu266Gly
ENST00000634384.2:c.3392A>G (ATRIP)
ENST00000635452.2:c.380A>G (TREX1)	ENSP00000492023.2:p.Glu127Gly
ENST00000296443.11:c.797A>G	ENSP00000296443.11:p.Glu266Gly
ENST00000433541.1:c.380A>G (TREX1)	ENSP00000412404.1:p.Glu127Gly
ENST00000444177.1:c.767A>G (TREX1)	ENSP00000415972.1:p.Glu256Gly
ENST00000456089.1:c.380A>G (TREX1)	ENSP00000411331.1:p.Glu127Gly
ENST00000625293.1:c.962A>G (TREX1)	ENSP00000486676.1:p.Glu321Gly
ENST00000629913.1:c.797A>G (TREX1)	ENSP00000486444.1:p.Glu266Gly
ENST00000634384.1:c.*3617A>G	ENSP00000489041.1:n.*3617A>G
ENST00000635452.1:n.2004A>G
ENST00000635464.1:c.3750A>G	ENSP00000489199.1:n.3750A>G
NM_007248.3:c.767A>G (TREX1)	NP_009179.2:p.Glu256Gly
NM_016381.5:c.962A>G (TREX1)	NP_057465.1:p.Glu321Gly
NM_033629.4:c.797A>G (TREX1)	NP_338599.1:p.Glu266Gly
NM_007248.4:c.767A>G (TREX1)	NP_009179.2:p.Glu256Gly
NM_033629.5:c.797A>G (TREX1)	NP_338599.1:p.Glu266Gly
NR_153405.1:n.4106A>G
NM_033629.6:c.797A>G (TREX1) MANE Select	NP_338599.1:p.Glu266Gly
NM_130384.3:c.*1898A>G (ATRIP) MANE Select	NP_569055.1:n.*1898A>G
NM_001271023.2:c.*1898A>G (ATRIP)	NP_001257952.1:n.*1898A>G
NM_007248.5:c.767A>G (TREX1)	NP_009179.2:p.Glu256Gly
NM_032166.4:c.*1898A>G (ATRIP)	NP_115542.2:n.*1898A>G
NM_001271022.2:c.*1898A>G (ATRIP)	NP_001257951.1:n.*1898A>G