Canonical Allele Identifier: CA73933227

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2059303
• ClinVar RCV Id: RCV002952728
• dbSNP Id: rs1015613176
• gnomAD v2: 3-48508780-G-A
• gnomAD v3: 3-48467381-G-A
• gnomAD v4: 3-48467381-G-A
• MyVariant Identifiers: chr3:g.48508780G>A (hg19) ; chr3:g.48467381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467381G>A , CM000665.2:g.48467381G>A	GRCh38
NC_000003.11:g.48508780G>A , CM000665.1:g.48508780G>A	GRCh37
NC_000003.10:g.48483784G>A	NCBI36
NG_009820.1:g.6552G>A
NG_033100.1:g.38480C>T
NG_041782.1:g.25672G>A
NG_009820.2:g.6552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1827G>A (ATRIP) MANE Select	ENSP00000323099.3:n.*1827G>A
ENST00000492235.2:c.309G>A (TREX1)	ENSP00000494511.1:p.Lys103=
ENST00000625293.3:c.726G>A (TREX1) MANE Select	ENSP00000486676.2:p.Lys242=
ENST00000634384.2:c.3321G>A (ATRIP)
ENST00000635452.2:c.309G>A (TREX1)	ENSP00000492023.2:p.Lys103=
ENST00000296443.11:c.726G>A	ENSP00000296443.11:p.Lys242=
ENST00000433541.1:c.309G>A (TREX1)	ENSP00000412404.1:p.Lys103=
ENST00000444177.1:c.696G>A (TREX1)	ENSP00000415972.1:p.Lys232=
ENST00000456089.1:c.309G>A (TREX1)	ENSP00000411331.1:p.Lys103=
ENST00000492235.1:n.644G>A (TREX1)
ENST00000625293.1:c.891G>A (TREX1)	ENSP00000486676.1:p.Lys297=
ENST00000629913.1:c.726G>A (TREX1)	ENSP00000486444.1:p.Lys242=
ENST00000634384.1:c.*3546G>A	ENSP00000489041.1:n.*3546G>A
ENST00000635452.1:n.1933G>A
ENST00000635464.1:c.3679G>A	ENSP00000489199.1:n.3679G>A
NM_007248.3:c.696G>A (TREX1)	NP_009179.2:p.Lys232=
NM_016381.5:c.891G>A (TREX1)	NP_057465.1:p.Lys297=
NM_033629.4:c.726G>A (TREX1)	NP_338599.1:p.Lys242=
NM_007248.4:c.696G>A (TREX1)	NP_009179.2:p.Lys232=
NM_033629.5:c.726G>A (TREX1)	NP_338599.1:p.Lys242=
NR_153405.1:n.4035G>A
NM_033629.6:c.726G>A (TREX1) MANE Select	NP_338599.1:p.Lys242=
NM_130384.3:c.*1827G>A (ATRIP) MANE Select	NP_569055.1:n.*1827G>A
NM_001271023.2:c.*1827G>A (ATRIP)	NP_001257952.1:n.*1827G>A
NM_007248.5:c.696G>A (TREX1)	NP_009179.2:p.Lys232=
NM_032166.4:c.*1827G>A (ATRIP)	NP_115542.2:n.*1827G>A
NM_001271022.2:c.*1827G>A (ATRIP)	NP_001257951.1:n.*1827G>A