Canonical Allele Identifier: CA352620248

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48467557-T-C
• MyVariant Identifiers: chr3:g.48508956T>C (hg19) ; chr3:g.48467557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48467557T>C , CM000665.2:g.48467557T>C	GRCh38
NC_000003.11:g.48508956T>C , CM000665.1:g.48508956T>C	GRCh37
NC_000003.10:g.48483960T>C	NCBI36
NG_009820.1:g.6728T>C
NG_033100.1:g.38304A>G
NG_041782.1:g.25848T>C
NG_009820.2:g.6728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*2003T>C (ATRIP) MANE Select	ENSP00000323099.3:n.*2003T>C
ENST00000492235.2:c.485T>C (TREX1)	ENSP00000494511.1:p.Val162Ala
ENST00000625293.3:c.902T>C (TREX1) MANE Select	ENSP00000486676.2:p.Val301Ala
ENST00000634384.2:c.3497T>C (ATRIP)
ENST00000635452.2:c.485T>C (TREX1)	ENSP00000492023.2:p.Val162Ala
ENST00000296443.11:c.902T>C	ENSP00000296443.11:p.Val301Ala
ENST00000433541.1:c.485T>C (TREX1)	ENSP00000412404.1:p.Val162Ala
ENST00000444177.1:c.872T>C (TREX1)	ENSP00000415972.1:p.Val291Ala
ENST00000456089.1:c.485T>C (TREX1)	ENSP00000411331.1:p.Val162Ala
ENST00000625293.1:c.1067T>C (TREX1)	ENSP00000486676.1:p.Val356Ala
ENST00000629913.1:c.902T>C (TREX1)	ENSP00000486444.1:p.Val301Ala
ENST00000634384.1:c.*3722T>C	ENSP00000489041.1:n.*3722T>C
ENST00000635452.1:n.2109T>C
ENST00000635464.1:c.3855T>C	ENSP00000489199.1:n.3855T>C
NM_007248.3:c.872T>C (TREX1)	NP_009179.2:p.Val291Ala
NM_016381.5:c.1067T>C (TREX1)	NP_057465.1:p.Val356Ala
NM_033629.4:c.902T>C (TREX1)	NP_338599.1:p.Val301Ala
NM_007248.4:c.872T>C (TREX1)	NP_009179.2:p.Val291Ala
NM_033629.5:c.902T>C (TREX1)	NP_338599.1:p.Val301Ala
NR_153405.1:n.4211T>C
NM_033629.6:c.902T>C (TREX1) MANE Select	NP_338599.1:p.Val301Ala
NM_130384.3:c.*2003T>C (ATRIP) MANE Select	NP_569055.1:n.*2003T>C
NM_001271023.2:c.*2003T>C (ATRIP)	NP_001257952.1:n.*2003T>C
NM_007248.5:c.872T>C (TREX1)	NP_009179.2:p.Val291Ala
NM_032166.4:c.*2003T>C (ATRIP)	NP_115542.2:n.*2003T>C
NM_001271022.2:c.*2003T>C (ATRIP)	NP_001257951.1:n.*2003T>C