Canonical Allele Identifier: CA2376757

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 374471
• ClinVar RCV Id: RCV000416230 ; RCV000764510 ; RCV000812216
• dbSNP Id: rs769885715
• ExAC: 3:48508977 C / G
• gnomAD v2: 3-48508977-C-G
• gnomAD v3: 3-48467578-C-G
• gnomAD v4: 3-48467578-C-G
• MyVariant Identifiers: chr3:g.48508977C>G (hg19) ; chr3:g.48467578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467578C>G , CM000665.2:g.48467578C>G	GRCh38
NC_000003.11:g.48508977C>G , CM000665.1:g.48508977C>G	GRCh37
NC_000003.10:g.48483981C>G	NCBI36
NG_009820.1:g.6749C>G
NG_033100.1:g.38283G>C
NG_041782.1:g.25869C>G
NG_009820.2:g.6749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2024C>G (ATRIP) MANE Select	ENSP00000323099.3:n.*2024C>G
ENST00000492235.2:c.506C>G (TREX1)	ENSP00000494511.1:p.Ser169Cys
ENST00000625293.3:c.923C>G (TREX1) MANE Select	ENSP00000486676.2:p.Ser308Cys
ENST00000634384.2:c.3518C>G (ATRIP)
ENST00000635452.2:c.506C>G (TREX1)	ENSP00000492023.2:p.Ser169Cys
ENST00000296443.11:c.923C>G	ENSP00000296443.11:p.Ser308Cys
ENST00000433541.1:c.506C>G (TREX1)	ENSP00000412404.1:p.Ser169Cys
ENST00000444177.1:c.893C>G (TREX1)	ENSP00000415972.1:p.Ser298Cys
ENST00000456089.1:c.506C>G (TREX1)	ENSP00000411331.1:p.Ser169Cys
ENST00000625293.1:c.1088C>G (TREX1)	ENSP00000486676.1:p.Ser363Cys
ENST00000629913.1:c.923C>G (TREX1)	ENSP00000486444.1:p.Ser308Cys
ENST00000634384.1:c.*3743C>G	ENSP00000489041.1:n.*3743C>G
ENST00000635452.1:n.2130C>G
ENST00000635464.1:c.3876C>G	ENSP00000489199.1:n.3876C>G
NM_007248.3:c.893C>G (TREX1)	NP_009179.2:p.Ser298Cys
NM_016381.5:c.1088C>G (TREX1)	NP_057465.1:p.Ser363Cys
NM_033629.4:c.923C>G (TREX1)	NP_338599.1:p.Ser308Cys
NM_007248.4:c.893C>G (TREX1)	NP_009179.2:p.Ser298Cys
NM_033629.5:c.923C>G (TREX1)	NP_338599.1:p.Ser308Cys
NR_153405.1:n.4232C>G
NM_033629.6:c.923C>G (TREX1) MANE Select	NP_338599.1:p.Ser308Cys
NM_130384.3:c.*2024C>G (ATRIP) MANE Select	NP_569055.1:n.*2024C>G
NM_001271023.2:c.*2024C>G (ATRIP)	NP_001257952.1:n.*2024C>G
NM_007248.5:c.893C>G (TREX1)	NP_009179.2:p.Ser298Cys
NM_032166.4:c.*2024C>G (ATRIP)	NP_115542.2:n.*2024C>G
NM_001271022.2:c.*2024C>G (ATRIP)	NP_001257951.1:n.*2024C>G