Canonical Allele Identifier: CA2376565

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466735C>T , CM000665.2:g.48466735C>T	GRCh38
NC_000003.11:g.48508134C>T , CM000665.1:g.48508134C>T	GRCh37
NC_000003.10:g.48483138C>T	NCBI36
NG_009820.1:g.5906C>T
NG_033100.1:g.39126G>A
NG_041782.1:g.25026C>T
NG_009820.2:g.5906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1181C>T (ATRIP) MANE Select	ENSP00000323099.3:n.*1181C>T
ENST00000492235.2:c.-295-43C>T (TREX1)	ENSP00000494511.1:n.-295-43C>T
ENST00000625293.3:c.80C>T (TREX1) MANE Select	ENSP00000486676.2:p.Ser27Phe
ENST00000634384.2:c.2675C>T (ATRIP)
ENST00000635452.2:c.-333-5C>T (TREX1)	ENSP00000492023.2:n.-333-5C>T
ENST00000296443.11:c.80C>T	ENSP00000296443.11:p.Ser27Phe
ENST00000433541.1:c.-333-5C>T (TREX1)	ENSP00000412404.1:n.-333-5C>T
ENST00000444177.1:c.50C>T (TREX1)	ENSP00000415972.1:p.Ser17Phe
ENST00000456089.1:c.-8-330C>T (TREX1)	ENSP00000411331.1:n.-8-330C>T
ENST00000492235.1:n.41-43C>T (TREX1)
ENST00000625293.1:c.245C>T (TREX1)	ENSP00000486676.1:p.Ser82Phe
ENST00000629913.1:c.80C>T (TREX1)	ENSP00000486444.1:p.Ser27Phe
ENST00000634384.1:c.*2900C>T	ENSP00000489041.1:n.*2900C>T
ENST00000635452.1:n.1287C>T
ENST00000635464.1:c.3033C>T	ENSP00000489199.1:n.3033C>T
NM_007248.3:c.50C>T (TREX1)	NP_009179.2:p.Ser17Phe
NM_016381.5:c.245C>T (TREX1)	NP_057465.1:p.Ser82Phe
NM_033629.4:c.80C>T (TREX1)	NP_338599.1:p.Ser27Phe
NM_007248.4:c.50C>T (TREX1)	NP_009179.2:p.Ser17Phe
NM_033629.5:c.80C>T (TREX1)	NP_338599.1:p.Ser27Phe
NR_153405.1:n.3389C>T
NM_033629.6:c.80C>T (TREX1) MANE Select	NP_338599.1:p.Ser27Phe
NM_130384.3:c.*1181C>T (ATRIP) MANE Select	NP_569055.1:n.*1181C>T
NM_001271023.2:c.*1181C>T (ATRIP)	NP_001257952.1:n.*1181C>T
NM_007248.5:c.50C>T (TREX1)	NP_009179.2:p.Ser17Phe
NM_032166.4:c.*1181C>T (ATRIP)	NP_115542.2:n.*1181C>T
NM_001271022.2:c.*1181C>T (ATRIP)	NP_001257951.1:n.*1181C>T