Canonical Allele Identifier: CA352617385

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48466800-A-C
• MyVariant Identifiers: chr3:g.48508199A>C (hg19) ; chr3:g.48466800A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466800A>C , CM000665.2:g.48466800A>C	GRCh38
NC_000003.11:g.48508199A>C , CM000665.1:g.48508199A>C	GRCh37
NC_000003.10:g.48483203A>C	NCBI36
NG_009820.1:g.5971A>C
NG_033100.1:g.39061T>G
NG_041782.1:g.25091A>C
NG_009820.2:g.5971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1246A>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1246A>C
ENST00000492235.2:c.-273A>C (TREX1)	ENSP00000494511.1:n.-273A>C
ENST00000625293.3:c.145A>C (TREX1) MANE Select	ENSP00000486676.2:p.Thr49Pro
ENST00000634384.2:c.2740A>C (ATRIP)
ENST00000635452.2:c.-273A>C (TREX1)	ENSP00000492023.2:n.-273A>C
ENST00000296443.11:c.145A>C	ENSP00000296443.11:p.Thr49Pro
ENST00000433541.1:c.-273A>C (TREX1)	ENSP00000412404.1:n.-273A>C
ENST00000444177.1:c.115A>C (TREX1)	ENSP00000415972.1:p.Thr39Pro
ENST00000456089.1:c.-8-265A>C (TREX1)	ENSP00000411331.1:n.-8-265A>C
ENST00000492235.1:n.63A>C (TREX1)
ENST00000625293.1:c.310A>C (TREX1)	ENSP00000486676.1:p.Thr104Pro
ENST00000629913.1:c.145A>C (TREX1)	ENSP00000486444.1:p.Thr49Pro
ENST00000634384.1:c.*2965A>C	ENSP00000489041.1:n.*2965A>C
ENST00000635452.1:n.1352A>C
ENST00000635464.1:c.3098A>C	ENSP00000489199.1:n.3098A>C
NM_007248.3:c.115A>C (TREX1)	NP_009179.2:p.Thr39Pro
NM_016381.5:c.310A>C (TREX1)	NP_057465.1:p.Thr104Pro
NM_033629.4:c.145A>C (TREX1)	NP_338599.1:p.Thr49Pro
NM_007248.4:c.115A>C (TREX1)	NP_009179.2:p.Thr39Pro
NM_033629.5:c.145A>C (TREX1)	NP_338599.1:p.Thr49Pro
NR_153405.1:n.3454A>C
NM_033629.6:c.145A>C (TREX1) MANE Select	NP_338599.1:p.Thr49Pro
NM_130384.3:c.*1246A>C (ATRIP) MANE Select	NP_569055.1:n.*1246A>C
NM_001271023.2:c.*1246A>C (ATRIP)	NP_001257952.1:n.*1246A>C
NM_007248.5:c.115A>C (TREX1)	NP_009179.2:p.Thr39Pro
NM_032166.4:c.*1246A>C (ATRIP)	NP_115542.2:n.*1246A>C
NM_001271022.2:c.*1246A>C (ATRIP)	NP_001257951.1:n.*1246A>C