Canonical Allele Identifier: CA433615683

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467090-T-C
• MyVariant Identifiers: chr3:g.48508489T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467090T>C , CM000665.2:g.48467090T>C	GRCh38
NC_000003.11:g.48508489T>C , CM000665.1:g.48508489T>C	GRCh37
NC_000003.10:g.48483493T>C	NCBI36
NG_009820.1:g.6261T>C
NG_033100.1:g.38771A>G
NG_041782.1:g.25381T>C
NG_009820.2:g.6261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1536T>C (ATRIP) MANE Select	ENSP00000323099.3:n.*1536T>C
ENST00000492235.2:c.18T>C (TREX1)	ENSP00000494511.1:p.Ser6=
ENST00000625293.3:c.435T>C (TREX1) MANE Select	ENSP00000486676.2:p.Ser145=
ENST00000634384.2:c.3030T>C (ATRIP)
ENST00000635452.2:c.18T>C (TREX1)	ENSP00000492023.2:p.Ser6=
ENST00000296443.11:c.435T>C	ENSP00000296443.11:p.Ser145=
ENST00000433541.1:c.18T>C (TREX1)	ENSP00000412404.1:p.Ser6=
ENST00000444177.1:c.405T>C (TREX1)	ENSP00000415972.1:p.Ser135=
ENST00000456089.1:c.18T>C (TREX1)	ENSP00000411331.1:p.Ser6=
ENST00000492235.1:n.353T>C (TREX1)
ENST00000625293.1:c.600T>C (TREX1)	ENSP00000486676.1:p.Ser200=
ENST00000629913.1:c.435T>C (TREX1)	ENSP00000486444.1:p.Ser145=
ENST00000634384.1:c.*3255T>C	ENSP00000489041.1:n.*3255T>C
ENST00000635452.1:n.1642T>C
ENST00000635464.1:c.3388T>C	ENSP00000489199.1:n.3388T>C
NM_007248.3:c.405T>C (TREX1)	NP_009179.2:p.Ser135=
NM_016381.5:c.600T>C (TREX1)	NP_057465.1:p.Ser200=
NM_033629.4:c.435T>C (TREX1)	NP_338599.1:p.Ser145=
NM_007248.4:c.405T>C (TREX1)	NP_009179.2:p.Ser135=
NM_033629.5:c.435T>C (TREX1)	NP_338599.1:p.Ser145=
NR_153405.1:n.3744T>C
NM_033629.6:c.435T>C (TREX1) MANE Select	NP_338599.1:p.Ser145=
NM_130384.3:c.*1536T>C (ATRIP) MANE Select	NP_569055.1:n.*1536T>C
NM_001271023.2:c.*1536T>C (ATRIP)	NP_001257952.1:n.*1536T>C
NM_007248.5:c.405T>C (TREX1)	NP_009179.2:p.Ser135=
NM_032166.4:c.*1536T>C (ATRIP)	NP_115542.2:n.*1536T>C
NM_001271022.2:c.*1536T>C (ATRIP)	NP_001257951.1:n.*1536T>C