Canonical Allele Identifier: CA2665603391

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467610-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467610G>T , CM000665.2:g.48467610G>T	GRCh38
NC_000003.11:g.48509009G>T , CM000665.1:g.48509009G>T	GRCh37
NC_000003.10:g.48484013G>T	NCBI36
NG_009820.1:g.6781G>T
NG_033100.1:g.38251C>A
NG_041782.1:g.25901G>T
NG_009820.2:g.6781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2056G>T (ATRIP) MANE Select	ENSP00000323099.3:n.*2056G>T
ENST00000492235.2:c.*10G>T (TREX1)	ENSP00000494511.1:n.*10G>T
ENST00000625293.3:c.*10G>T (TREX1) MANE Select	ENSP00000486676.2:n.*10G>T
ENST00000634384.2:c.3550G>T (ATRIP)
ENST00000635452.2:c.*10G>T (TREX1)	ENSP00000492023.2:n.*10G>T
ENST00000296443.11:c.*10G>T	ENSP00000296443.11:n.*10G>T
ENST00000433541.1:c.*10G>T (TREX1)	ENSP00000412404.1:n.*10G>T
ENST00000444177.1:c.*10G>T (TREX1)	ENSP00000415972.1:n.*10G>T
ENST00000456089.1:c.*10G>T (TREX1)	ENSP00000411331.1:n.*10G>T
ENST00000625293.1:c.*10G>T (TREX1)	ENSP00000486676.1:n.*10G>T
ENST00000634384.1:c.*3775G>T	ENSP00000489041.1:n.*3775G>T
ENST00000635452.1:n.2162G>T
ENST00000635464.1:c.3908G>T	ENSP00000489199.1:n.3908G>T
NM_007248.3:c.*10G>T (TREX1)	NP_009179.2:n.*10G>T
NM_016381.5:c.*10G>T (TREX1)	NP_057465.1:n.*10G>T
NM_033629.4:c.*10G>T (TREX1)	NP_338599.1:n.*10G>T
NM_007248.4:c.*10G>T (TREX1)	NP_009179.2:n.*10G>T
NM_033629.5:c.*10G>T (TREX1)	NP_338599.1:n.*10G>T
NR_153405.1:n.4264G>T
NM_033629.6:c.*10G>T (TREX1) MANE Select	NP_338599.1:n.*10G>T
NM_130384.3:c.*2056G>T (ATRIP) MANE Select	NP_569055.1:n.*2056G>T
NM_001271023.2:c.*2056G>T (ATRIP)	NP_001257952.1:n.*2056G>T
NM_007248.5:c.*10G>T (TREX1)	NP_009179.2:n.*10G>T
NM_032166.4:c.*2056G>T (ATRIP)	NP_115542.2:n.*2056G>T
NM_001271022.2:c.*2056G>T (ATRIP)	NP_001257951.1:n.*2056G>T