Canonical Allele Identifier: CA352619650

Gene: ATRIP TREX1

Linked Data

• MyVariant Identifiers: chr3:g.48508847G>C (hg19) ; chr3:g.48467448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467448G>C , CM000665.2:g.48467448G>C	GRCh38
NC_000003.11:g.48508847G>C , CM000665.1:g.48508847G>C	GRCh37
NC_000003.10:g.48483851G>C	NCBI36
NG_009820.1:g.6619G>C
NG_033100.1:g.38413C>G
NG_041782.1:g.25739G>C
NG_009820.2:g.6619G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1894G>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1894G>C
ENST00000492235.2:c.376G>C (TREX1)	ENSP00000494511.1:p.Gly126Arg
ENST00000625293.3:c.793G>C (TREX1) MANE Select	ENSP00000486676.2:p.Gly265Arg
ENST00000634384.2:c.3388G>C (ATRIP)
ENST00000635452.2:c.376G>C (TREX1)	ENSP00000492023.2:p.Gly126Arg
ENST00000296443.11:c.793G>C	ENSP00000296443.11:p.Gly265Arg
ENST00000433541.1:c.376G>C (TREX1)	ENSP00000412404.1:p.Gly126Arg
ENST00000444177.1:c.763G>C (TREX1)	ENSP00000415972.1:p.Gly255Arg
ENST00000456089.1:c.376G>C (TREX1)	ENSP00000411331.1:p.Gly126Arg
ENST00000625293.1:c.958G>C (TREX1)	ENSP00000486676.1:p.Gly320Arg
ENST00000629913.1:c.793G>C (TREX1)	ENSP00000486444.1:p.Gly265Arg
ENST00000634384.1:c.*3613G>C	ENSP00000489041.1:n.*3613G>C
ENST00000635452.1:n.2000G>C
ENST00000635464.1:c.3746G>C	ENSP00000489199.1:n.3746G>C
NM_007248.3:c.763G>C (TREX1)	NP_009179.2:p.Gly255Arg
NM_016381.5:c.958G>C (TREX1)	NP_057465.1:p.Gly320Arg
NM_033629.4:c.793G>C (TREX1)	NP_338599.1:p.Gly265Arg
NM_007248.4:c.763G>C (TREX1)	NP_009179.2:p.Gly255Arg
NM_033629.5:c.793G>C (TREX1)	NP_338599.1:p.Gly265Arg
NR_153405.1:n.4102G>C
NM_033629.6:c.793G>C (TREX1) MANE Select	NP_338599.1:p.Gly265Arg
NM_130384.3:c.*1894G>C (ATRIP) MANE Select	NP_569055.1:n.*1894G>C
NM_001271023.2:c.*1894G>C (ATRIP)	NP_001257952.1:n.*1894G>C
NM_007248.5:c.763G>C (TREX1)	NP_009179.2:p.Gly255Arg
NM_032166.4:c.*1894G>C (ATRIP)	NP_115542.2:n.*1894G>C
NM_001271022.2:c.*1894G>C (ATRIP)	NP_001257951.1:n.*1894G>C