Canonical Allele Identifier: CA2376694

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 570429
• ClinVar RCV Id: RCV000691299 ; RCV001726303 ; RCV002282329 ; RCV002485645 ; RCV004535720
• dbSNP Id: rs146524913
• ExAC: 3:48508677 G / C
• gnomAD v2: 3-48508677-G-C
• gnomAD v3: 3-48467278-G-C
• gnomAD v4: 3-48467278-G-C
• MyVariant Identifiers: chr3:g.48508677G>C (hg19) ; chr3:g.48467278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467278G>C , CM000665.2:g.48467278G>C	GRCh38
NC_000003.11:g.48508677G>C , CM000665.1:g.48508677G>C	GRCh37
NC_000003.10:g.48483681G>C	NCBI36
NG_009820.1:g.6449G>C
NG_033100.1:g.38583C>G
NG_041782.1:g.25569G>C
NG_009820.2:g.6449G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1724G>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1724G>C
ENST00000492235.2:c.206G>C (TREX1)	ENSP00000494511.1:p.Cys69Ser
ENST00000625293.3:c.623G>C (TREX1) MANE Select	ENSP00000486676.2:p.Cys208Ser
ENST00000634384.2:c.3218G>C (ATRIP)
ENST00000635452.2:c.206G>C (TREX1)	ENSP00000492023.2:p.Cys69Ser
ENST00000296443.11:c.623G>C	ENSP00000296443.11:p.Cys208Ser
ENST00000433541.1:c.206G>C (TREX1)	ENSP00000412404.1:p.Cys69Ser
ENST00000444177.1:c.593G>C (TREX1)	ENSP00000415972.1:p.Cys198Ser
ENST00000456089.1:c.206G>C (TREX1)	ENSP00000411331.1:p.Cys69Ser
ENST00000492235.1:n.541G>C (TREX1)
ENST00000625293.1:c.788G>C (TREX1)	ENSP00000486676.1:p.Cys263Ser
ENST00000629913.1:c.623G>C (TREX1)	ENSP00000486444.1:p.Cys208Ser
ENST00000634384.1:c.*3443G>C	ENSP00000489041.1:n.*3443G>C
ENST00000635452.1:n.1830G>C
ENST00000635464.1:c.3576G>C	ENSP00000489199.1:n.3576G>C
NM_007248.3:c.593G>C (TREX1)	NP_009179.2:p.Cys198Ser
NM_016381.5:c.788G>C (TREX1)	NP_057465.1:p.Cys263Ser
NM_033629.4:c.623G>C (TREX1)	NP_338599.1:p.Cys208Ser
NM_007248.4:c.593G>C (TREX1)	NP_009179.2:p.Cys198Ser
NM_033629.5:c.623G>C (TREX1)	NP_338599.1:p.Cys208Ser
NR_153405.1:n.3932G>C
NM_033629.6:c.623G>C (TREX1) MANE Select	NP_338599.1:p.Cys208Ser
NM_130384.3:c.*1724G>C (ATRIP) MANE Select	NP_569055.1:n.*1724G>C
NM_001271023.2:c.*1724G>C (ATRIP)	NP_001257952.1:n.*1724G>C
NM_007248.5:c.593G>C (TREX1)	NP_009179.2:p.Cys198Ser
NM_032166.4:c.*1724G>C (ATRIP)	NP_115542.2:n.*1724G>C
NM_001271022.2:c.*1724G>C (ATRIP)	NP_001257951.1:n.*1724G>C