Canonical Allele Identifier: CA352618883

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2943586
• ClinVar RCV Id: RCV003803144
• dbSNP Id: rs1297546144
• gnomAD v4: 3-48467310-G-T
• MyVariant Identifiers: chr3:g.48508709G>T (hg19) ; chr3:g.48467310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467310G>T , CM000665.2:g.48467310G>T	GRCh38
NC_000003.11:g.48508709G>T , CM000665.1:g.48508709G>T	GRCh37
NC_000003.10:g.48483713G>T	NCBI36
NG_009820.1:g.6481G>T
NG_033100.1:g.38551C>A
NG_041782.1:g.25601G>T
NG_009820.2:g.6481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1756G>T (ATRIP) MANE Select	ENSP00000323099.3:n.*1756G>T
ENST00000492235.2:c.238G>T (TREX1)	ENSP00000494511.1:p.Val80Leu
ENST00000625293.3:c.655G>T (TREX1) MANE Select	ENSP00000486676.2:p.Val219Leu
ENST00000634384.2:c.3250G>T (ATRIP)
ENST00000635452.2:c.238G>T (TREX1)	ENSP00000492023.2:p.Val80Leu
ENST00000296443.11:c.655G>T	ENSP00000296443.11:p.Val219Leu
ENST00000433541.1:c.238G>T (TREX1)	ENSP00000412404.1:p.Val80Leu
ENST00000444177.1:c.625G>T (TREX1)	ENSP00000415972.1:p.Val209Leu
ENST00000456089.1:c.238G>T (TREX1)	ENSP00000411331.1:p.Val80Leu
ENST00000492235.1:n.573G>T (TREX1)
ENST00000625293.1:c.820G>T (TREX1)	ENSP00000486676.1:p.Val274Leu
ENST00000629913.1:c.655G>T (TREX1)	ENSP00000486444.1:p.Val219Leu
ENST00000634384.1:c.*3475G>T	ENSP00000489041.1:n.*3475G>T
ENST00000635452.1:n.1862G>T
ENST00000635464.1:c.3608G>T	ENSP00000489199.1:n.3608G>T
NM_007248.3:c.625G>T (TREX1)	NP_009179.2:p.Val209Leu
NM_016381.5:c.820G>T (TREX1)	NP_057465.1:p.Val274Leu
NM_033629.4:c.655G>T (TREX1)	NP_338599.1:p.Val219Leu
NM_007248.4:c.625G>T (TREX1)	NP_009179.2:p.Val209Leu
NM_033629.5:c.655G>T (TREX1)	NP_338599.1:p.Val219Leu
NR_153405.1:n.3964G>T
NM_033629.6:c.655G>T (TREX1) MANE Select	NP_338599.1:p.Val219Leu
NM_130384.3:c.*1756G>T (ATRIP) MANE Select	NP_569055.1:n.*1756G>T
NM_001271023.2:c.*1756G>T (ATRIP)	NP_001257952.1:n.*1756G>T
NM_007248.5:c.625G>T (TREX1)	NP_009179.2:p.Val209Leu
NM_032166.4:c.*1756G>T (ATRIP)	NP_115542.2:n.*1756G>T
NM_001271022.2:c.*1756G>T (ATRIP)	NP_001257951.1:n.*1756G>T