Canonical Allele Identifier: CA352620388

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 1515655
• ClinVar RCV Id: RCV002021249
• dbSNP Id: rs1265570241
• gnomAD v4: 3-48467589-C-G
• MyVariant Identifiers: chr3:g.48508988C>G (hg19) ; chr3:g.48467589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467589C>G , CM000665.2:g.48467589C>G	GRCh38
NC_000003.11:g.48508988C>G , CM000665.1:g.48508988C>G	GRCh37
NC_000003.10:g.48483992C>G	NCBI36
NG_009820.1:g.6760C>G
NG_033100.1:g.38272G>C
NG_041782.1:g.25880C>G
NG_009820.2:g.6760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2035C>G (ATRIP) MANE Select	ENSP00000323099.3:n.*2035C>G
ENST00000492235.2:c.517C>G (TREX1)	ENSP00000494511.1:p.Pro173Ala
ENST00000625293.3:c.934C>G (TREX1) MANE Select	ENSP00000486676.2:p.Pro312Ala
ENST00000634384.2:c.3529C>G (ATRIP)
ENST00000635452.2:c.517C>G (TREX1)	ENSP00000492023.2:p.Pro173Ala
ENST00000296443.11:c.934C>G	ENSP00000296443.11:p.Pro312Ala
ENST00000433541.1:c.517C>G (TREX1)	ENSP00000412404.1:p.Pro173Ala
ENST00000444177.1:c.904C>G (TREX1)	ENSP00000415972.1:p.Pro302Ala
ENST00000456089.1:c.517C>G (TREX1)	ENSP00000411331.1:p.Pro173Ala
ENST00000625293.1:c.1099C>G (TREX1)	ENSP00000486676.1:p.Pro367Ala
ENST00000629913.1:c.934C>G (TREX1)	ENSP00000486444.1:p.Pro312Ala
ENST00000634384.1:c.*3754C>G	ENSP00000489041.1:n.*3754C>G
ENST00000635452.1:n.2141C>G
ENST00000635464.1:c.3887C>G	ENSP00000489199.1:n.3887C>G
NM_007248.3:c.904C>G (TREX1)	NP_009179.2:p.Pro302Ala
NM_016381.5:c.1099C>G (TREX1)	NP_057465.1:p.Pro367Ala
NM_033629.4:c.934C>G (TREX1)	NP_338599.1:p.Pro312Ala
NM_007248.4:c.904C>G (TREX1)	NP_009179.2:p.Pro302Ala
NM_033629.5:c.934C>G (TREX1)	NP_338599.1:p.Pro312Ala
NR_153405.1:n.4243C>G
NM_033629.6:c.934C>G (TREX1) MANE Select	NP_338599.1:p.Pro312Ala
NM_130384.3:c.*2035C>G (ATRIP) MANE Select	NP_569055.1:n.*2035C>G
NM_001271023.2:c.*2035C>G (ATRIP)	NP_001257952.1:n.*2035C>G
NM_007248.5:c.904C>G (TREX1)	NP_009179.2:p.Pro302Ala
NM_032166.4:c.*2035C>G (ATRIP)	NP_115542.2:n.*2035C>G
NM_001271022.2:c.*2035C>G (ATRIP)	NP_001257951.1:n.*2035C>G