Canonical Allele Identifier: CA433616405

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2055040
• ClinVar RCV Id: RCV002947143
• MyVariant Identifiers: chr3:g.48508964C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467565C>T , CM000665.2:g.48467565C>T	GRCh38
NC_000003.11:g.48508964C>T , CM000665.1:g.48508964C>T	GRCh37
NC_000003.10:g.48483968C>T	NCBI36
NG_009820.1:g.6736C>T
NG_033100.1:g.38296G>A
NG_041782.1:g.25856C>T
NG_009820.2:g.6736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2011C>T (ATRIP) MANE Select	ENSP00000323099.3:n.*2011C>T
ENST00000492235.2:c.493C>T (TREX1)	ENSP00000494511.1:p.Leu165=
ENST00000625293.3:c.910C>T (TREX1) MANE Select	ENSP00000486676.2:p.Leu304=
ENST00000634384.2:c.3505C>T (ATRIP)
ENST00000635452.2:c.493C>T (TREX1)	ENSP00000492023.2:p.Leu165=
ENST00000296443.11:c.910C>T	ENSP00000296443.11:p.Leu304=
ENST00000433541.1:c.493C>T (TREX1)	ENSP00000412404.1:p.Leu165=
ENST00000444177.1:c.880C>T (TREX1)	ENSP00000415972.1:p.Leu294=
ENST00000456089.1:c.493C>T (TREX1)	ENSP00000411331.1:p.Leu165=
ENST00000625293.1:c.1075C>T (TREX1)	ENSP00000486676.1:p.Leu359=
ENST00000629913.1:c.910C>T (TREX1)	ENSP00000486444.1:p.Leu304=
ENST00000634384.1:c.*3730C>T	ENSP00000489041.1:n.*3730C>T
ENST00000635452.1:n.2117C>T
ENST00000635464.1:c.3863C>T	ENSP00000489199.1:n.3863C>T
NM_007248.3:c.880C>T (TREX1)	NP_009179.2:p.Leu294=
NM_016381.5:c.1075C>T (TREX1)	NP_057465.1:p.Leu359=
NM_033629.4:c.910C>T (TREX1)	NP_338599.1:p.Leu304=
NM_007248.4:c.880C>T (TREX1)	NP_009179.2:p.Leu294=
NM_033629.5:c.910C>T (TREX1)	NP_338599.1:p.Leu304=
NR_153405.1:n.4219C>T
NM_033629.6:c.910C>T (TREX1) MANE Select	NP_338599.1:p.Leu304=
NM_130384.3:c.*2011C>T (ATRIP) MANE Select	NP_569055.1:n.*2011C>T
NM_001271023.2:c.*2011C>T (ATRIP)	NP_001257952.1:n.*2011C>T
NM_007248.5:c.880C>T (TREX1)	NP_009179.2:p.Leu294=
NM_032166.4:c.*2011C>T (ATRIP)	NP_115542.2:n.*2011C>T
NM_001271022.2:c.*2011C>T (ATRIP)	NP_001257951.1:n.*2011C>T