Canonical Allele Identifier: CA352617970

Gene: ATRIP TREX1

Linked Data

• MyVariant Identifiers: chr3:g.48508425A>T (hg19) ; chr3:g.48467026A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467026A>T , CM000665.2:g.48467026A>T	GRCh38
NC_000003.11:g.48508425A>T , CM000665.1:g.48508425A>T	GRCh37
NC_000003.10:g.48483429A>T	NCBI36
NG_009820.1:g.6197A>T
NG_033100.1:g.38835T>A
NG_041782.1:g.25317A>T
NG_009820.2:g.6197A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1472A>T (ATRIP) MANE Select	ENSP00000323099.3:n.*1472A>T
ENST00000492235.2:c.-47A>T (TREX1)	ENSP00000494511.1:n.-47A>T
ENST00000625293.3:c.371A>T (TREX1) MANE Select	ENSP00000486676.2:p.His124Leu
ENST00000634384.2:c.2966A>T (ATRIP)
ENST00000635452.2:c.-47A>T (TREX1)	ENSP00000492023.2:n.-47A>T
ENST00000296443.11:c.371A>T	ENSP00000296443.11:p.His124Leu
ENST00000433541.1:c.-47A>T (TREX1)	ENSP00000412404.1:n.-47A>T
ENST00000444177.1:c.341A>T (TREX1)	ENSP00000415972.1:p.His114Leu
ENST00000456089.1:c.-8-39A>T (TREX1)	ENSP00000411331.1:n.-8-39A>T
ENST00000492235.1:n.289A>T (TREX1)
ENST00000625293.1:c.536A>T (TREX1)	ENSP00000486676.1:p.His179Leu
ENST00000629913.1:c.371A>T (TREX1)	ENSP00000486444.1:p.His124Leu
ENST00000634384.1:c.*3191A>T	ENSP00000489041.1:n.*3191A>T
ENST00000635452.1:n.1578A>T
ENST00000635464.1:c.3324A>T	ENSP00000489199.1:n.3324A>T
NM_007248.3:c.341A>T (TREX1)	NP_009179.2:p.His114Leu
NM_016381.5:c.536A>T (TREX1)	NP_057465.1:p.His179Leu
NM_033629.4:c.371A>T (TREX1)	NP_338599.1:p.His124Leu
NM_007248.4:c.341A>T (TREX1)	NP_009179.2:p.His114Leu
NM_033629.5:c.371A>T (TREX1)	NP_338599.1:p.His124Leu
NR_153405.1:n.3680A>T
NM_033629.6:c.371A>T (TREX1) MANE Select	NP_338599.1:p.His124Leu
NM_130384.3:c.*1472A>T (ATRIP) MANE Select	NP_569055.1:n.*1472A>T
NM_001271023.2:c.*1472A>T (ATRIP)	NP_001257952.1:n.*1472A>T
NM_007248.5:c.341A>T (TREX1)	NP_009179.2:p.His114Leu
NM_032166.4:c.*1472A>T (ATRIP)	NP_115542.2:n.*1472A>T
NM_001271022.2:c.*1472A>T (ATRIP)	NP_001257951.1:n.*1472A>T