Canonical Allele Identifier: CA433616264

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs1242019591
• gnomAD v3: 3-48467024-A-C
• gnomAD v4: 3-48467024-A-C
• MyVariant Identifiers: chr3:g.48508423A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467024A>C , CM000665.2:g.48467024A>C	GRCh38
NC_000003.11:g.48508423A>C , CM000665.1:g.48508423A>C	GRCh37
NC_000003.10:g.48483427A>C	NCBI36
NG_009820.1:g.6195A>C
NG_033100.1:g.38837T>G
NG_041782.1:g.25315A>C
NG_009820.2:g.6195A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320211.10:c.*1470A>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1470A>C
ENST00000492235.2:c.-49A>C (TREX1)	ENSP00000494511.1:n.-49A>C
ENST00000625293.3:c.369A>C (TREX1) MANE Select	ENSP00000486676.2:p.Ala123=
ENST00000634384.2:c.2964A>C (ATRIP)
ENST00000635452.2:c.-49A>C (TREX1)	ENSP00000492023.2:n.-49A>C
ENST00000296443.11:c.369A>C	ENSP00000296443.11:p.Ala123=
ENST00000433541.1:c.-49A>C (TREX1)	ENSP00000412404.1:n.-49A>C
ENST00000444177.1:c.339A>C (TREX1)	ENSP00000415972.1:p.Ala113=
ENST00000456089.1:c.-8-41A>C (TREX1)	ENSP00000411331.1:n.-8-41A>C
ENST00000492235.1:n.287A>C (TREX1)
ENST00000625293.1:c.534A>C (TREX1)	ENSP00000486676.1:p.Ala178=
ENST00000629913.1:c.369A>C (TREX1)	ENSP00000486444.1:p.Ala123=
ENST00000634384.1:c.*3189A>C	ENSP00000489041.1:n.*3189A>C
ENST00000635452.1:n.1576A>C
ENST00000635464.1:c.3322A>C	ENSP00000489199.1:n.3322A>C
NM_007248.3:c.339A>C (TREX1)	NP_009179.2:p.Ala113=
NM_016381.5:c.534A>C (TREX1)	NP_057465.1:p.Ala178=
NM_033629.4:c.369A>C (TREX1)	NP_338599.1:p.Ala123=
NM_007248.4:c.339A>C (TREX1)	NP_009179.2:p.Ala113=
NM_033629.5:c.369A>C (TREX1)	NP_338599.1:p.Ala123=
NR_153405.1:n.3678A>C
NM_033629.6:c.369A>C (TREX1) MANE Select	NP_338599.1:p.Ala123=
NM_130384.3:c.*1470A>C (ATRIP) MANE Select	NP_569055.1:n.*1470A>C
NM_001271023.2:c.*1470A>C (ATRIP)	NP_001257952.1:n.*1470A>C
NM_007248.5:c.339A>C (TREX1)	NP_009179.2:p.Ala113=
NM_032166.4:c.*1470A>C (ATRIP)	NP_115542.2:n.*1470A>C
NM_001271022.2:c.*1470A>C (ATRIP)	NP_001257951.1:n.*1470A>C