Canonical Allele Identifier: CA10616211

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466236C>T , CM000665.2:g.48466236C>T	GRCh38
NC_000003.11:g.48507635C>T , CM000665.1:g.48507635C>T	GRCh37
NC_000003.10:g.48482639C>T	NCBI36
NG_009820.1:g.5407C>T
NG_033100.1:g.39625G>A
NG_041782.1:g.24527C>T
NG_009820.2:g.5407C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033629.6:c.-100C>T (TREX1) MANE Select	NP_338599.1:n.-100C>T
NM_130384.3:c.*682C>T (ATRIP) MANE Select	NP_569055.1:n.*682C>T
ENST00000320211.10:c.*682C>T (ATRIP) MANE Select	ENSP00000323099.3:n.*682C>T
ENST00000625293.3:c.-100C>T (TREX1) MANE Select	ENSP00000486676.2:n.-100C>T
NM_001271022.2:c.*682C>T (ATRIP)	NP_001257951.1:n.*682C>T
NM_001271023.2:c.*682C>T (ATRIP)	NP_001257952.1:n.*682C>T
NM_007248.3:c.-19+67C>T (TREX1)	NP_009179.2:n.-19+67C>T
NM_007248.4:c.-19+67C>T (TREX1)	NP_009179.2:n.-19+67C>T
NM_007248.5:c.-19+67C>T (TREX1)	NP_009179.2:n.-19+67C>T
NM_016381.5:c.-255C>T (TREX1)	NP_057465.1:n.-255C>T
NM_032166.4:c.*682C>T (ATRIP)	NP_115542.2:n.*682C>T
NM_033629.4:c.-100C>T (TREX1)	NP_338599.1:n.-100C>T
NM_033629.5:c.-100C>T (TREX1)	NP_338599.1:n.-100C>T
NR_153405.1:n.3210C>T
ENST00000296443.11:c.-100C>T	ENSP00000296443.11:n.-100C>T
ENST00000433541.1:c.-404-15C>T (TREX1)	ENSP00000412404.1:n.-404-15C>T
ENST00000444177.1:c.-19+67C>T (TREX1)	ENSP00000415972.1:n.-19+67C>T
ENST00000625293.1:c.-255C>T (TREX1)	ENSP00000486676.1:n.-255C>T
ENST00000629913.1:c.-100C>T (TREX1)	ENSP00000486444.1:n.-100C>T
ENST00000634384.1:c.*2721C>T	ENSP00000489041.1:n.*2721C>T
ENST00000634384.2:c.2496C>T (ATRIP)
ENST00000635452.1:n.788C>T
ENST00000635464.1:c.2854C>T	ENSP00000489199.1:n.2854C>T