Canonical Allele Identifier: CA2376768

Gene: ATRIP TREX1

Linked Data

• dbSNP Id: rs764657515
• ExAC: 3:48509028 A / C
• gnomAD v2: 3-48509028-A-C
• gnomAD v4: 3-48467629-A-C
• MyVariant Identifiers: chr3:g.48509028A>C (hg19) ; chr3:g.48467629A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467629A>C , CM000665.2:g.48467629A>C	GRCh38
NC_000003.11:g.48509028A>C , CM000665.1:g.48509028A>C	GRCh37
NC_000003.10:g.48484032A>C	NCBI36
NG_009820.1:g.6800A>C
NG_033100.1:g.38232T>G
NG_041782.1:g.25920A>C
NG_009820.2:g.6800A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2075A>C (ATRIP) MANE Select	ENSP00000323099.3:n.*2075A>C
ENST00000492235.2:c.*29A>C (TREX1)	ENSP00000494511.1:n.*29A>C
ENST00000625293.3:c.*29A>C (TREX1) MANE Select	ENSP00000486676.2:n.*29A>C
ENST00000634384.2:c.3569A>C (ATRIP)
ENST00000635452.2:c.*29A>C (TREX1)	ENSP00000492023.2:n.*29A>C
ENST00000296443.11:c.*29A>C	ENSP00000296443.11:n.*29A>C
ENST00000433541.1:c.*29A>C (TREX1)	ENSP00000412404.1:n.*29A>C
ENST00000444177.1:c.*29A>C (TREX1)	ENSP00000415972.1:n.*29A>C
ENST00000456089.1:c.*29A>C (TREX1)	ENSP00000411331.1:n.*29A>C
ENST00000625293.1:c.*29A>C (TREX1)	ENSP00000486676.1:n.*29A>C
ENST00000634384.1:c.*3794A>C	ENSP00000489041.1:n.*3794A>C
ENST00000635452.1:n.2181A>C
ENST00000635464.1:c.3927A>C	ENSP00000489199.1:n.3927A>C
NM_007248.3:c.*29A>C (TREX1)	NP_009179.2:n.*29A>C
NM_016381.5:c.*29A>C (TREX1)	NP_057465.1:n.*29A>C
NM_033629.4:c.*29A>C (TREX1)	NP_338599.1:n.*29A>C
NM_007248.4:c.*29A>C (TREX1)	NP_009179.2:n.*29A>C
NM_033629.5:c.*29A>C (TREX1)	NP_338599.1:n.*29A>C
NR_153405.1:n.4283A>C
NM_033629.6:c.*29A>C (TREX1) MANE Select	NP_338599.1:n.*29A>C
NM_130384.3:c.*2075A>C (ATRIP) MANE Select	NP_569055.1:n.*2075A>C
NM_001271023.2:c.*2075A>C (ATRIP)	NP_001257952.1:n.*2075A>C
NM_007248.5:c.*29A>C (TREX1)	NP_009179.2:n.*29A>C
NM_032166.4:c.*2075A>C (ATRIP)	NP_115542.2:n.*2075A>C
NM_001271022.2:c.*2075A>C (ATRIP)	NP_001257951.1:n.*2075A>C