Canonical Allele Identifier: CA433615614

Gene: ATRIP TREX1

Linked Data

• MyVariant Identifiers: chr3:g.48508141C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466742C>T , CM000665.2:g.48466742C>T	GRCh38
NC_000003.11:g.48508141C>T , CM000665.1:g.48508141C>T	GRCh37
NC_000003.10:g.48483145C>T	NCBI36
NG_009820.1:g.5913C>T
NG_033100.1:g.39119G>A
NG_041782.1:g.25033C>T
NG_009820.2:g.5913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1188C>T (ATRIP) MANE Select	ENSP00000323099.3:n.*1188C>T
ENST00000492235.2:c.-295-36C>T (TREX1)	ENSP00000494511.1:n.-295-36C>T
ENST00000625293.3:c.87C>T (TREX1) MANE Select	ENSP00000486676.2:p.Pro29=
ENST00000634384.2:c.2682C>T (ATRIP)
ENST00000635452.2:c.-331C>T (TREX1)	ENSP00000492023.2:n.-331C>T
ENST00000296443.11:c.87C>T	ENSP00000296443.11:p.Pro29=
ENST00000433541.1:c.-331C>T (TREX1)	ENSP00000412404.1:n.-331C>T
ENST00000444177.1:c.57C>T (TREX1)	ENSP00000415972.1:p.Pro19=
ENST00000456089.1:c.-8-323C>T (TREX1)	ENSP00000411331.1:n.-8-323C>T
ENST00000492235.1:n.41-36C>T (TREX1)
ENST00000625293.1:c.252C>T (TREX1)	ENSP00000486676.1:p.Pro84=
ENST00000629913.1:c.87C>T (TREX1)	ENSP00000486444.1:p.Pro29=
ENST00000634384.1:c.*2907C>T	ENSP00000489041.1:n.*2907C>T
ENST00000635452.1:n.1294C>T
ENST00000635464.1:c.3040C>T	ENSP00000489199.1:n.3040C>T
NM_007248.3:c.57C>T (TREX1)	NP_009179.2:p.Pro19=
NM_016381.5:c.252C>T (TREX1)	NP_057465.1:p.Pro84=
NM_033629.4:c.87C>T (TREX1)	NP_338599.1:p.Pro29=
NM_007248.4:c.57C>T (TREX1)	NP_009179.2:p.Pro19=
NM_033629.5:c.87C>T (TREX1)	NP_338599.1:p.Pro29=
NR_153405.1:n.3396C>T
NM_033629.6:c.87C>T (TREX1) MANE Select	NP_338599.1:p.Pro29=
NM_130384.3:c.*1188C>T (ATRIP) MANE Select	NP_569055.1:n.*1188C>T
NM_001271023.2:c.*1188C>T (ATRIP)	NP_001257952.1:n.*1188C>T
NM_007248.5:c.57C>T (TREX1)	NP_009179.2:p.Pro19=
NM_032166.4:c.*1188C>T (ATRIP)	NP_115542.2:n.*1188C>T
NM_001271022.2:c.*1188C>T (ATRIP)	NP_001257951.1:n.*1188C>T