Canonical Allele Identifier: CA352618415

Gene: ATRIP TREX1

Linked Data

• MyVariant Identifiers: chr3:g.48467186T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467186T>A , CM000665.2:g.48467186T>A	GRCh38
NG_041782.1:g.25477T>A
NG_009820.2:g.6357T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320211.10:c.*1632T>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1632T>A
ENST00000492235.2:c.114T>A (TREX1)	ENSP00000494511.1:p.Tyr38Ter
ENST00000625293.3:c.531T>A (TREX1) MANE Select	ENSP00000486676.2:p.Tyr177Ter
ENST00000634384.2:c.3126T>A (ATRIP)
ENST00000635452.2:c.114T>A (TREX1)	ENSP00000492023.2:p.Tyr38Ter
ENST00000296443.11:c.531T>A	ENSP00000296443.11:p.Tyr177Ter
ENST00000433541.1:c.114T>A (TREX1)	ENSP00000412404.1:p.Tyr38Ter
ENST00000444177.1:c.501T>A (TREX1)	ENSP00000415972.1:p.Tyr167Ter
ENST00000456089.1:c.114T>A (TREX1)	ENSP00000411331.1:p.Tyr38Ter
ENST00000492235.1:n.449T>A (TREX1)
ENST00000625293.1:c.696T>A (TREX1)	ENSP00000486676.1:p.Tyr232Ter
ENST00000629913.1:c.531T>A (TREX1)	ENSP00000486444.1:p.Tyr177Ter
ENST00000634384.1:c.*3351T>A	ENSP00000489041.1:n.*3351T>A
ENST00000635452.1:n.1738T>A
ENST00000635464.1:c.3484T>A	ENSP00000489199.1:n.3484T>A
NM_007248.3:c.501T>A (TREX1)	NP_009179.2:p.Tyr167Ter
NM_016381.5:c.696T>A (TREX1)	NP_057465.1:p.Tyr232Ter
NM_033629.4:c.531T>A (TREX1)	NP_338599.1:p.Tyr177Ter
NM_007248.4:c.501T>A (TREX1)	NP_009179.2:p.Tyr167Ter
NM_033629.5:c.531T>A (TREX1)	NP_338599.1:p.Tyr177Ter
NR_153405.1:n.3840T>A
NM_033629.6:c.531T>A (TREX1) MANE Select	NP_338599.1:p.Tyr177Ter
NM_130384.3:c.*1632T>A (ATRIP) MANE Select	NP_569055.1:n.*1632T>A
NM_001271023.2:c.*1632T>A (ATRIP)	NP_001257952.1:n.*1632T>A
NM_007248.5:c.501T>A (TREX1)	NP_009179.2:p.Tyr167Ter
NM_032166.4:c.*1632T>A (ATRIP)	NP_115542.2:n.*1632T>A
NM_001271022.2:c.*1632T>A (ATRIP)	NP_001257951.1:n.*1632T>A