Canonical Allele Identifier: CA352617010

Gene: ATRIP TREX1

Linked Data

• MyVariant Identifiers: chr3:g.48508109A>T (hg19) ; chr3:g.48466710A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466710A>T , CM000665.2:g.48466710A>T	GRCh38
NC_000003.11:g.48508109A>T , CM000665.1:g.48508109A>T	GRCh37
NC_000003.10:g.48483113A>T	NCBI36
NG_009820.1:g.5881A>T
NG_033100.1:g.39151T>A
NG_041782.1:g.25001A>T
NG_009820.2:g.5881A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1156A>T (ATRIP) MANE Select	ENSP00000323099.3:n.*1156A>T
ENST00000492235.2:c.-295-68A>T (TREX1)	ENSP00000494511.1:n.-295-68A>T
ENST00000625293.3:c.55A>T (TREX1) MANE Select	ENSP00000486676.2:p.Met19Leu
ENST00000634384.2:c.2650A>T (ATRIP)
ENST00000635452.2:c.-333-30A>T (TREX1)	ENSP00000492023.2:n.-333-30A>T
ENST00000296443.11:c.55A>T	ENSP00000296443.11:p.Met19Leu
ENST00000433541.1:c.-333-30A>T (TREX1)	ENSP00000412404.1:n.-333-30A>T
ENST00000444177.1:c.25A>T (TREX1)	ENSP00000415972.1:p.Met9Leu
ENST00000456089.1:c.-8-355A>T (TREX1)	ENSP00000411331.1:n.-8-355A>T
ENST00000492235.1:n.41-68A>T (TREX1)
ENST00000625293.1:c.220A>T (TREX1)	ENSP00000486676.1:p.Met74Leu
ENST00000629913.1:c.55A>T (TREX1)	ENSP00000486444.1:p.Met19Leu
ENST00000634384.1:c.*2875A>T	ENSP00000489041.1:n.*2875A>T
ENST00000635452.1:n.1262A>T
ENST00000635464.1:c.3008A>T	ENSP00000489199.1:n.3008A>T
NM_007248.3:c.25A>T (TREX1)	NP_009179.2:p.Met9Leu
NM_016381.5:c.220A>T (TREX1)	NP_057465.1:p.Met74Leu
NM_033629.4:c.55A>T (TREX1)	NP_338599.1:p.Met19Leu
NM_007248.4:c.25A>T (TREX1)	NP_009179.2:p.Met9Leu
NM_033629.5:c.55A>T (TREX1)	NP_338599.1:p.Met19Leu
NR_153405.1:n.3364A>T
NM_033629.6:c.55A>T (TREX1) MANE Select	NP_338599.1:p.Met19Leu
NM_130384.3:c.*1156A>T (ATRIP) MANE Select	NP_569055.1:n.*1156A>T
NM_001271023.2:c.*1156A>T (ATRIP)	NP_001257952.1:n.*1156A>T
NM_007248.5:c.25A>T (TREX1)	NP_009179.2:p.Met9Leu
NM_032166.4:c.*1156A>T (ATRIP)	NP_115542.2:n.*1156A>T
NM_001271022.2:c.*1156A>T (ATRIP)	NP_001257951.1:n.*1156A>T