Canonical Allele Identifier: CA433615758

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs1312834489
• gnomAD v2: 3-48508741-C-T
• MyVariant Identifiers: chr3:g.48508741C>T (hg19) ; chr3:g.48467342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467342C>T , CM000665.2:g.48467342C>T	GRCh38
NC_000003.11:g.48508741C>T , CM000665.1:g.48508741C>T	GRCh37
NC_000003.10:g.48483745C>T	NCBI36
NG_009820.1:g.6513C>T
NG_033100.1:g.38519G>A
NG_041782.1:g.25633C>T
NG_009820.2:g.6513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1788C>T (ATRIP) MANE Select	ENSP00000323099.3:n.*1788C>T
ENST00000492235.2:c.270C>T (TREX1)	ENSP00000494511.1:p.Ile90=
ENST00000625293.3:c.687C>T (TREX1) MANE Select	ENSP00000486676.2:p.Ile229=
ENST00000634384.2:c.3282C>T (ATRIP)
ENST00000635452.2:c.270C>T (TREX1)	ENSP00000492023.2:p.Ile90=
ENST00000296443.11:c.687C>T	ENSP00000296443.11:p.Ile229=
ENST00000433541.1:c.270C>T (TREX1)	ENSP00000412404.1:p.Ile90=
ENST00000444177.1:c.657C>T (TREX1)	ENSP00000415972.1:p.Ile219=
ENST00000456089.1:c.270C>T (TREX1)	ENSP00000411331.1:p.Ile90=
ENST00000492235.1:n.605C>T (TREX1)
ENST00000625293.1:c.852C>T (TREX1)	ENSP00000486676.1:p.Ile284=
ENST00000629913.1:c.687C>T (TREX1)	ENSP00000486444.1:p.Ile229=
ENST00000634384.1:c.*3507C>T	ENSP00000489041.1:n.*3507C>T
ENST00000635452.1:n.1894C>T
ENST00000635464.1:c.3640C>T	ENSP00000489199.1:n.3640C>T
NM_007248.3:c.657C>T (TREX1)	NP_009179.2:p.Ile219=
NM_016381.5:c.852C>T (TREX1)	NP_057465.1:p.Ile284=
NM_033629.4:c.687C>T (TREX1)	NP_338599.1:p.Ile229=
NM_007248.4:c.657C>T (TREX1)	NP_009179.2:p.Ile219=
NM_033629.5:c.687C>T (TREX1)	NP_338599.1:p.Ile229=
NR_153405.1:n.3996C>T
NM_033629.6:c.687C>T (TREX1) MANE Select	NP_338599.1:p.Ile229=
NM_130384.3:c.*1788C>T (ATRIP) MANE Select	NP_569055.1:n.*1788C>T
NM_001271023.2:c.*1788C>T (ATRIP)	NP_001257952.1:n.*1788C>T
NM_007248.5:c.657C>T (TREX1)	NP_009179.2:p.Ile219=
NM_032166.4:c.*1788C>T (ATRIP)	NP_115542.2:n.*1788C>T
NM_001271022.2:c.*1788C>T (ATRIP)	NP_001257951.1:n.*1788C>T