Canonical Allele Identifier: CA2376648

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 1351953
• ClinVar RCV Id: RCV002047232 ; RCV004536371
• dbSNP Id: rs200510205
• ExAC: 3:48508448 C / A
• gnomAD v2: 3-48508448-C-A
• gnomAD v4: 3-48467049-C-A
• MyVariant Identifiers: chr3:g.48508448C>A (hg19) ; chr3:g.48467049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467049C>A , CM000665.2:g.48467049C>A	GRCh38
NC_000003.11:g.48508448C>A , CM000665.1:g.48508448C>A	GRCh37
NC_000003.10:g.48483452C>A	NCBI36
NG_009820.1:g.6220C>A
NG_033100.1:g.38812G>T
NG_041782.1:g.25340C>A
NG_009820.2:g.6220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1495C>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1495C>A
ENST00000492235.2:c.-24C>A (TREX1)	ENSP00000494511.1:n.-24C>A
ENST00000625293.3:c.394C>A (TREX1) MANE Select	ENSP00000486676.2:p.Pro132Thr
ENST00000634384.2:c.2989C>A (ATRIP)
ENST00000635452.2:c.-24C>A (TREX1)	ENSP00000492023.2:n.-24C>A
ENST00000296443.11:c.394C>A	ENSP00000296443.11:p.Pro132Thr
ENST00000433541.1:c.-24C>A (TREX1)	ENSP00000412404.1:n.-24C>A
ENST00000444177.1:c.364C>A (TREX1)	ENSP00000415972.1:p.Pro122Thr
ENST00000456089.1:c.-8-16C>A (TREX1)	ENSP00000411331.1:n.-8-16C>A
ENST00000492235.1:n.312C>A (TREX1)
ENST00000625293.1:c.559C>A (TREX1)	ENSP00000486676.1:p.Pro187Thr
ENST00000629913.1:c.394C>A (TREX1)	ENSP00000486444.1:p.Pro132Thr
ENST00000634384.1:c.*3214C>A	ENSP00000489041.1:n.*3214C>A
ENST00000635452.1:n.1601C>A
ENST00000635464.1:c.3347C>A	ENSP00000489199.1:n.3347C>A
NM_007248.3:c.364C>A (TREX1)	NP_009179.2:p.Pro122Thr
NM_016381.5:c.559C>A (TREX1)	NP_057465.1:p.Pro187Thr
NM_033629.4:c.394C>A (TREX1)	NP_338599.1:p.Pro132Thr
NM_007248.4:c.364C>A (TREX1)	NP_009179.2:p.Pro122Thr
NM_033629.5:c.394C>A (TREX1)	NP_338599.1:p.Pro132Thr
NR_153405.1:n.3703C>A
NM_033629.6:c.394C>A (TREX1) MANE Select	NP_338599.1:p.Pro132Thr
NM_130384.3:c.*1495C>A (ATRIP) MANE Select	NP_569055.1:n.*1495C>A
NM_001271023.2:c.*1495C>A (ATRIP)	NP_001257952.1:n.*1495C>A
NM_007248.5:c.364C>A (TREX1)	NP_009179.2:p.Pro122Thr
NM_032166.4:c.*1495C>A (ATRIP)	NP_115542.2:n.*1495C>A
NM_001271022.2:c.*1495C>A (ATRIP)	NP_001257951.1:n.*1495C>A