Canonical Allele Identifier: CA433616438

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 2949500
• ClinVar RCV Id: RCV003804666
• gnomAD v4: 3-48467585-C-A
• MyVariant Identifiers: chr3:g.48508984C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467585C>A , CM000665.2:g.48467585C>A	GRCh38
NC_000003.11:g.48508984C>A , CM000665.1:g.48508984C>A	GRCh37
NC_000003.10:g.48483988C>A	NCBI36
NG_009820.1:g.6756C>A
NG_033100.1:g.38276G>T
NG_041782.1:g.25876C>A
NG_009820.2:g.6756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2031C>A (ATRIP) MANE Select	ENSP00000323099.3:n.*2031C>A
ENST00000492235.2:c.513C>A (TREX1)	ENSP00000494511.1:p.Ala171=
ENST00000625293.3:c.930C>A (TREX1) MANE Select	ENSP00000486676.2:p.Ala310=
ENST00000634384.2:c.3525C>A (ATRIP)
ENST00000635452.2:c.513C>A (TREX1)	ENSP00000492023.2:p.Ala171=
ENST00000296443.11:c.930C>A	ENSP00000296443.11:p.Ala310=
ENST00000433541.1:c.513C>A (TREX1)	ENSP00000412404.1:p.Ala171=
ENST00000444177.1:c.900C>A (TREX1)	ENSP00000415972.1:p.Ala300=
ENST00000456089.1:c.513C>A (TREX1)	ENSP00000411331.1:p.Ala171=
ENST00000625293.1:c.1095C>A (TREX1)	ENSP00000486676.1:p.Ala365=
ENST00000629913.1:c.930C>A (TREX1)	ENSP00000486444.1:p.Ala310=
ENST00000634384.1:c.*3750C>A	ENSP00000489041.1:n.*3750C>A
ENST00000635452.1:n.2137C>A
ENST00000635464.1:c.3883C>A	ENSP00000489199.1:n.3883C>A
NM_007248.3:c.900C>A (TREX1)	NP_009179.2:p.Ala300=
NM_016381.5:c.1095C>A (TREX1)	NP_057465.1:p.Ala365=
NM_033629.4:c.930C>A (TREX1)	NP_338599.1:p.Ala310=
NM_007248.4:c.900C>A (TREX1)	NP_009179.2:p.Ala300=
NM_033629.5:c.930C>A (TREX1)	NP_338599.1:p.Ala310=
NR_153405.1:n.4239C>A
NM_033629.6:c.930C>A (TREX1) MANE Select	NP_338599.1:p.Ala310=
NM_130384.3:c.*2031C>A (ATRIP) MANE Select	NP_569055.1:n.*2031C>A
NM_001271023.2:c.*2031C>A (ATRIP)	NP_001257952.1:n.*2031C>A
NM_007248.5:c.900C>A (TREX1)	NP_009179.2:p.Ala300=
NM_032166.4:c.*2031C>A (ATRIP)	NP_115542.2:n.*2031C>A
NM_001271022.2:c.*2031C>A (ATRIP)	NP_001257951.1:n.*2031C>A