Canonical Allele Identifier: CA352618693

Gene: ATRIP TREX1

Linked Data

• MyVariant Identifiers: chr3:g.48508659T>C (hg19) ; chr3:g.48467260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467260T>C , CM000665.2:g.48467260T>C	GRCh38
NC_000003.11:g.48508659T>C , CM000665.1:g.48508659T>C	GRCh37
NC_000003.10:g.48483663T>C	NCBI36
NG_009820.1:g.6431T>C
NG_033100.1:g.38601A>G
NG_041782.1:g.25551T>C
NG_009820.2:g.6431T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1706T>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1706T>C
ENST00000492235.2:c.188T>C (TREX1)	ENSP00000494511.1:p.Leu63Pro
ENST00000625293.3:c.605T>C (TREX1) MANE Select	ENSP00000486676.2:p.Leu202Pro
ENST00000634384.2:c.3200T>C (ATRIP)
ENST00000635452.2:c.188T>C (TREX1)	ENSP00000492023.2:p.Leu63Pro
ENST00000296443.11:c.605T>C	ENSP00000296443.11:p.Leu202Pro
ENST00000433541.1:c.188T>C (TREX1)	ENSP00000412404.1:p.Leu63Pro
ENST00000444177.1:c.575T>C (TREX1)	ENSP00000415972.1:p.Leu192Pro
ENST00000456089.1:c.188T>C (TREX1)	ENSP00000411331.1:p.Leu63Pro
ENST00000492235.1:n.523T>C (TREX1)
ENST00000625293.1:c.770T>C (TREX1)	ENSP00000486676.1:p.Leu257Pro
ENST00000629913.1:c.605T>C (TREX1)	ENSP00000486444.1:p.Leu202Pro
ENST00000634384.1:c.*3425T>C	ENSP00000489041.1:n.*3425T>C
ENST00000635452.1:n.1812T>C
ENST00000635464.1:c.3558T>C	ENSP00000489199.1:n.3558T>C
NM_007248.3:c.575T>C (TREX1)	NP_009179.2:p.Leu192Pro
NM_016381.5:c.770T>C (TREX1)	NP_057465.1:p.Leu257Pro
NM_033629.4:c.605T>C (TREX1)	NP_338599.1:p.Leu202Pro
NM_007248.4:c.575T>C (TREX1)	NP_009179.2:p.Leu192Pro
NM_033629.5:c.605T>C (TREX1)	NP_338599.1:p.Leu202Pro
NR_153405.1:n.3914T>C
NM_033629.6:c.605T>C (TREX1) MANE Select	NP_338599.1:p.Leu202Pro
NM_130384.3:c.*1706T>C (ATRIP) MANE Select	NP_569055.1:n.*1706T>C
NM_001271023.2:c.*1706T>C (ATRIP)	NP_001257952.1:n.*1706T>C
NM_007248.5:c.575T>C (TREX1)	NP_009179.2:p.Leu192Pro
NM_032166.4:c.*1706T>C (ATRIP)	NP_115542.2:n.*1706T>C
NM_001271022.2:c.*1706T>C (ATRIP)	NP_001257951.1:n.*1706T>C