Canonical Allele Identifier: CA2376710

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2146220
• ClinVar RCV Id: RCV003074450 ; RCV004070397
• dbSNP Id: rs139228069
• ExAC: 3:48508732 C / G
• gnomAD v2: 3-48508732-C-G
• gnomAD v3: 3-48467333-C-G
• gnomAD v4: 3-48467333-C-G
• MyVariant Identifiers: chr3:g.48508732C>G (hg19) ; chr3:g.48467333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467333C>G , CM000665.2:g.48467333C>G	GRCh38
NC_000003.11:g.48508732C>G , CM000665.1:g.48508732C>G	GRCh37
NC_000003.10:g.48483736C>G	NCBI36
NG_009820.1:g.6504C>G
NG_033100.1:g.38528G>C
NG_041782.1:g.25624C>G
NG_009820.2:g.6504C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1779C>G (ATRIP) MANE Select	ENSP00000323099.3:n.*1779C>G
ENST00000492235.2:c.261C>G (TREX1)	ENSP00000494511.1:p.Phe87Leu
ENST00000625293.3:c.678C>G (TREX1) MANE Select	ENSP00000486676.2:p.Phe226Leu
ENST00000634384.2:c.3273C>G (ATRIP)
ENST00000635452.2:c.261C>G (TREX1)	ENSP00000492023.2:p.Phe87Leu
ENST00000296443.11:c.678C>G	ENSP00000296443.11:p.Phe226Leu
ENST00000433541.1:c.261C>G (TREX1)	ENSP00000412404.1:p.Phe87Leu
ENST00000444177.1:c.648C>G (TREX1)	ENSP00000415972.1:p.Phe216Leu
ENST00000456089.1:c.261C>G (TREX1)	ENSP00000411331.1:p.Phe87Leu
ENST00000492235.1:n.596C>G (TREX1)
ENST00000625293.1:c.843C>G (TREX1)	ENSP00000486676.1:p.Phe281Leu
ENST00000629913.1:c.678C>G (TREX1)	ENSP00000486444.1:p.Phe226Leu
ENST00000634384.1:c.*3498C>G	ENSP00000489041.1:n.*3498C>G
ENST00000635452.1:n.1885C>G
ENST00000635464.1:c.3631C>G	ENSP00000489199.1:n.3631C>G
NM_007248.3:c.648C>G (TREX1)	NP_009179.2:p.Phe216Leu
NM_016381.5:c.843C>G (TREX1)	NP_057465.1:p.Phe281Leu
NM_033629.4:c.678C>G (TREX1)	NP_338599.1:p.Phe226Leu
NM_007248.4:c.648C>G (TREX1)	NP_009179.2:p.Phe216Leu
NM_033629.5:c.678C>G (TREX1)	NP_338599.1:p.Phe226Leu
NR_153405.1:n.3987C>G
NM_033629.6:c.678C>G (TREX1) MANE Select	NP_338599.1:p.Phe226Leu
NM_130384.3:c.*1779C>G (ATRIP) MANE Select	NP_569055.1:n.*1779C>G
NM_001271023.2:c.*1779C>G (ATRIP)	NP_001257952.1:n.*1779C>G
NM_007248.5:c.648C>G (TREX1)	NP_009179.2:p.Phe216Leu
NM_032166.4:c.*1779C>G (ATRIP)	NP_115542.2:n.*1779C>G
NM_001271022.2:c.*1779C>G (ATRIP)	NP_001257951.1:n.*1779C>G