Canonical Allele Identifier: CA352617050

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs1472348056
• gnomAD v2: 3-48508118-A-G
• gnomAD v4: 3-48466719-A-G
• MyVariant Identifiers: chr3:g.48508118A>G (hg19) ; chr3:g.48466719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466719A>G , CM000665.2:g.48466719A>G	GRCh38
NC_000003.11:g.48508118A>G , CM000665.1:g.48508118A>G	GRCh37
NC_000003.10:g.48483122A>G	NCBI36
NG_009820.1:g.5890A>G
NG_033100.1:g.39142T>C
NG_041782.1:g.25010A>G
NG_009820.2:g.5890A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1165A>G (ATRIP) MANE Select	ENSP00000323099.3:n.*1165A>G
ENST00000492235.2:c.-295-59A>G (TREX1)	ENSP00000494511.1:n.-295-59A>G
ENST00000625293.3:c.64A>G (TREX1) MANE Select	ENSP00000486676.2:p.Thr22Ala
ENST00000634384.2:c.2659A>G (ATRIP)
ENST00000635452.2:c.-333-21A>G (TREX1)	ENSP00000492023.2:n.-333-21A>G
ENST00000296443.11:c.64A>G	ENSP00000296443.11:p.Thr22Ala
ENST00000433541.1:c.-333-21A>G (TREX1)	ENSP00000412404.1:n.-333-21A>G
ENST00000444177.1:c.34A>G (TREX1)	ENSP00000415972.1:p.Thr12Ala
ENST00000456089.1:c.-8-346A>G (TREX1)	ENSP00000411331.1:n.-8-346A>G
ENST00000492235.1:n.41-59A>G (TREX1)
ENST00000625293.1:c.229A>G (TREX1)	ENSP00000486676.1:p.Thr77Ala
ENST00000629913.1:c.64A>G (TREX1)	ENSP00000486444.1:p.Thr22Ala
ENST00000634384.1:c.*2884A>G	ENSP00000489041.1:n.*2884A>G
ENST00000635452.1:n.1271A>G
ENST00000635464.1:c.3017A>G	ENSP00000489199.1:n.3017A>G
NM_007248.3:c.34A>G (TREX1)	NP_009179.2:p.Thr12Ala
NM_016381.5:c.229A>G (TREX1)	NP_057465.1:p.Thr77Ala
NM_033629.4:c.64A>G (TREX1)	NP_338599.1:p.Thr22Ala
NM_007248.4:c.34A>G (TREX1)	NP_009179.2:p.Thr12Ala
NM_033629.5:c.64A>G (TREX1)	NP_338599.1:p.Thr22Ala
NR_153405.1:n.3373A>G
NM_033629.6:c.64A>G (TREX1) MANE Select	NP_338599.1:p.Thr22Ala
NM_130384.3:c.*1165A>G (ATRIP) MANE Select	NP_569055.1:n.*1165A>G
NM_001271023.2:c.*1165A>G (ATRIP)	NP_001257952.1:n.*1165A>G
NM_007248.5:c.34A>G (TREX1)	NP_009179.2:p.Thr12Ala
NM_032166.4:c.*1165A>G (ATRIP)	NP_115542.2:n.*1165A>G
NM_001271022.2:c.*1165A>G (ATRIP)	NP_001257951.1:n.*1165A>G