Canonical Allele Identifier: CA2376583

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs777638105
• ExAC: 3:48508211 C / A
• gnomAD v2: 3-48508211-C-A
• gnomAD v4: 3-48466812-C-A
• MyVariant Identifiers: chr3:g.48508211C>A (hg19) ; chr3:g.48466812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466812C>A , CM000665.2:g.48466812C>A	GRCh38
NC_000003.11:g.48508211C>A , CM000665.1:g.48508211C>A	GRCh37
NC_000003.10:g.48483215C>A	NCBI36
NG_009820.1:g.5983C>A
NG_033100.1:g.39049G>T
NG_041782.1:g.25103C>A
NG_009820.2:g.5983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1258C>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1258C>A
ENST00000492235.2:c.-261C>A (TREX1)	ENSP00000494511.1:n.-261C>A
ENST00000625293.3:c.157C>A (TREX1) MANE Select	ENSP00000486676.2:p.Pro53Thr
ENST00000634384.2:c.2752C>A (ATRIP)
ENST00000635452.2:c.-261C>A (TREX1)	ENSP00000492023.2:n.-261C>A
ENST00000296443.11:c.157C>A	ENSP00000296443.11:p.Pro53Thr
ENST00000433541.1:c.-261C>A (TREX1)	ENSP00000412404.1:n.-261C>A
ENST00000444177.1:c.127C>A (TREX1)	ENSP00000415972.1:p.Pro43Thr
ENST00000456089.1:c.-8-253C>A (TREX1)	ENSP00000411331.1:n.-8-253C>A
ENST00000492235.1:n.75C>A (TREX1)
ENST00000625293.1:c.322C>A (TREX1)	ENSP00000486676.1:p.Pro108Thr
ENST00000629913.1:c.157C>A (TREX1)	ENSP00000486444.1:p.Pro53Thr
ENST00000634384.1:c.*2977C>A	ENSP00000489041.1:n.*2977C>A
ENST00000635452.1:n.1364C>A
ENST00000635464.1:c.3110C>A	ENSP00000489199.1:n.3110C>A
NM_007248.3:c.127C>A (TREX1)	NP_009179.2:p.Pro43Thr
NM_016381.5:c.322C>A (TREX1)	NP_057465.1:p.Pro108Thr
NM_033629.4:c.157C>A (TREX1)	NP_338599.1:p.Pro53Thr
NM_007248.4:c.127C>A (TREX1)	NP_009179.2:p.Pro43Thr
NM_033629.5:c.157C>A (TREX1)	NP_338599.1:p.Pro53Thr
NR_153405.1:n.3466C>A
NM_033629.6:c.157C>A (TREX1) MANE Select	NP_338599.1:p.Pro53Thr
NM_130384.3:c.*1258C>A (ATRIP) MANE Select	NP_569055.1:n.*1258C>A
NM_001271023.2:c.*1258C>A (ATRIP)	NP_001257952.1:n.*1258C>A
NM_007248.5:c.127C>A (TREX1)	NP_009179.2:p.Pro43Thr
NM_032166.4:c.*1258C>A (ATRIP)	NP_115542.2:n.*1258C>A
NM_001271022.2:c.*1258C>A (ATRIP)	NP_001257951.1:n.*1258C>A