Canonical Allele Identifier: CA2376699

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2940673
• ClinVar RCV Id: RCV003799983
• dbSNP Id: rs774107853
• ExAC: 3:48508699 G / A
• gnomAD v2: 3-48508699-G-A
• gnomAD v3: 3-48467300-G-A
• gnomAD v4: 3-48467300-G-A
• MyVariant Identifiers: chr3:g.48508699G>A (hg19) ; chr3:g.48467300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467300G>A , CM000665.2:g.48467300G>A	GRCh38
NC_000003.11:g.48508699G>A , CM000665.1:g.48508699G>A	GRCh37
NC_000003.10:g.48483703G>A	NCBI36
NG_009820.1:g.6471G>A
NG_033100.1:g.38561C>T
NG_041782.1:g.25591G>A
NG_009820.2:g.6471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1746G>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1746G>A
ENST00000492235.2:c.228G>A (TREX1)	ENSP00000494511.1:p.Leu76=
ENST00000625293.3:c.645G>A (TREX1) MANE Select	ENSP00000486676.2:p.Leu215=
ENST00000634384.2:c.3240G>A (ATRIP)
ENST00000635452.2:c.228G>A (TREX1)	ENSP00000492023.2:p.Leu76=
ENST00000296443.11:c.645G>A	ENSP00000296443.11:p.Leu215=
ENST00000433541.1:c.228G>A (TREX1)	ENSP00000412404.1:p.Leu76=
ENST00000444177.1:c.615G>A (TREX1)	ENSP00000415972.1:p.Leu205=
ENST00000456089.1:c.228G>A (TREX1)	ENSP00000411331.1:p.Leu76=
ENST00000492235.1:n.563G>A (TREX1)
ENST00000625293.1:c.810G>A (TREX1)	ENSP00000486676.1:p.Leu270=
ENST00000629913.1:c.645G>A (TREX1)	ENSP00000486444.1:p.Leu215=
ENST00000634384.1:c.*3465G>A	ENSP00000489041.1:n.*3465G>A
ENST00000635452.1:n.1852G>A
ENST00000635464.1:c.3598G>A	ENSP00000489199.1:n.3598G>A
NM_007248.3:c.615G>A (TREX1)	NP_009179.2:p.Leu205=
NM_016381.5:c.810G>A (TREX1)	NP_057465.1:p.Leu270=
NM_033629.4:c.645G>A (TREX1)	NP_338599.1:p.Leu215=
NM_007248.4:c.615G>A (TREX1)	NP_009179.2:p.Leu205=
NM_033629.5:c.645G>A (TREX1)	NP_338599.1:p.Leu215=
NR_153405.1:n.3954G>A
NM_033629.6:c.645G>A (TREX1) MANE Select	NP_338599.1:p.Leu215=
NM_130384.3:c.*1746G>A (ATRIP) MANE Select	NP_569055.1:n.*1746G>A
NM_001271023.2:c.*1746G>A (ATRIP)	NP_001257952.1:n.*1746G>A
NM_007248.5:c.615G>A (TREX1)	NP_009179.2:p.Leu205=
NM_032166.4:c.*1746G>A (ATRIP)	NP_115542.2:n.*1746G>A
NM_001271022.2:c.*1746G>A (ATRIP)	NP_001257951.1:n.*1746G>A