Canonical Allele Identifier: CA352618824

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 652641
• ClinVar RCV Id: RCV000808229
• dbSNP Id: rs1575293697
• MyVariant Identifiers: chr3:g.48508694G>A (hg19) ; chr3:g.48467295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467295G>A , CM000665.2:g.48467295G>A	GRCh38
NC_000003.11:g.48508694G>A , CM000665.1:g.48508694G>A	GRCh37
NC_000003.10:g.48483698G>A	NCBI36
NG_009820.1:g.6466G>A
NG_033100.1:g.38566C>T
NG_041782.1:g.25586G>A
NG_009820.2:g.6466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1741G>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1741G>A
ENST00000492235.2:c.223G>A (TREX1)	ENSP00000494511.1:p.Ala75Thr
ENST00000625293.3:c.640G>A (TREX1) MANE Select	ENSP00000486676.2:p.Ala214Thr
ENST00000634384.2:c.3235G>A (ATRIP)
ENST00000635452.2:c.223G>A (TREX1)	ENSP00000492023.2:p.Ala75Thr
ENST00000296443.11:c.640G>A	ENSP00000296443.11:p.Ala214Thr
ENST00000433541.1:c.223G>A (TREX1)	ENSP00000412404.1:p.Ala75Thr
ENST00000444177.1:c.610G>A (TREX1)	ENSP00000415972.1:p.Ala204Thr
ENST00000456089.1:c.223G>A (TREX1)	ENSP00000411331.1:p.Ala75Thr
ENST00000492235.1:n.558G>A (TREX1)
ENST00000625293.1:c.805G>A (TREX1)	ENSP00000486676.1:p.Ala269Thr
ENST00000629913.1:c.640G>A (TREX1)	ENSP00000486444.1:p.Ala214Thr
ENST00000634384.1:c.*3460G>A	ENSP00000489041.1:n.*3460G>A
ENST00000635452.1:n.1847G>A
ENST00000635464.1:c.3593G>A	ENSP00000489199.1:n.3593G>A
NM_007248.3:c.610G>A (TREX1)	NP_009179.2:p.Ala204Thr
NM_016381.5:c.805G>A (TREX1)	NP_057465.1:p.Ala269Thr
NM_033629.4:c.640G>A (TREX1)	NP_338599.1:p.Ala214Thr
NM_007248.4:c.610G>A (TREX1)	NP_009179.2:p.Ala204Thr
NM_033629.5:c.640G>A (TREX1)	NP_338599.1:p.Ala214Thr
NR_153405.1:n.3949G>A
NM_033629.6:c.640G>A (TREX1) MANE Select	NP_338599.1:p.Ala214Thr
NM_130384.3:c.*1741G>A (ATRIP) MANE Select	NP_569055.1:n.*1741G>A
NM_001271023.2:c.*1741G>A (ATRIP)	NP_001257952.1:n.*1741G>A
NM_007248.5:c.610G>A (TREX1)	NP_009179.2:p.Ala204Thr
NM_032166.4:c.*1741G>A (ATRIP)	NP_115542.2:n.*1741G>A
NM_001271022.2:c.*1741G>A (ATRIP)	NP_001257951.1:n.*1741G>A