Canonical Allele Identifier: CA10616821

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 345765
• ClinVar RCV Id: RCV000285987 ; RCV000380457
• dbSNP Id: rs767364235
• gnomAD v2: 3-48507536-A-G
• gnomAD v3: 3-48466137-A-G
• gnomAD v4: 3-48466137-A-G
• MyVariant Identifiers: chr3:g.48507536A>G (hg19) ; chr3:g.48466137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466137A>G , CM000665.2:g.48466137A>G	GRCh38
NC_000003.11:g.48507536A>G , CM000665.1:g.48507536A>G	GRCh37
NC_000003.10:g.48482540A>G	NCBI36
NG_009820.1:g.5308A>G
NG_033100.1:g.39724T>C
NG_041782.1:g.24428A>G
NG_009820.2:g.5308A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320211.10:c.*583A>G (ATRIP) MANE Select	ENSP00000323099.3:n.*583A>G
ENST00000634384.2:c.2397A>G (ATRIP)
ENST00000296443.11:c.-199A>G	ENSP00000296443.11:n.-199A>G
ENST00000433541.1:c.-404-114A>G (TREX1)	ENSP00000412404.1:n.-404-114A>G
ENST00000444177.1:c.-51A>G (TREX1)	ENSP00000415972.1:n.-51A>G
ENST00000625293.1:c.-354A>G (TREX1)	ENSP00000486676.1:n.-354A>G
ENST00000629913.1:c.-199A>G (TREX1)	ENSP00000486444.1:n.-199A>G
ENST00000634384.1:c.*2622A>G	ENSP00000489041.1:n.*2622A>G
ENST00000635452.1:n.689A>G
ENST00000635464.1:c.2755A>G	ENSP00000489199.1:n.2755A>G
NM_007248.3:c.-51A>G (TREX1)	NP_009179.2:n.-51A>G
NM_016381.5:c.-354A>G (TREX1)	NP_057465.1:n.-354A>G
NM_033629.4:c.-199A>G (TREX1)	NP_338599.1:n.-199A>G
NM_007248.4:c.-51A>G (TREX1)	NP_009179.2:n.-51A>G
NR_153405.1:n.3111A>G
NM_130384.3:c.*583A>G (ATRIP) MANE Select	NP_569055.1:n.*583A>G
NM_001271023.2:c.*583A>G (ATRIP)	NP_001257952.1:n.*583A>G
NM_007248.5:c.-51A>G (TREX1)	NP_009179.2:n.-51A>G
NM_032166.4:c.*583A>G (ATRIP)	NP_115542.2:n.*583A>G
NM_001271022.2:c.*583A>G (ATRIP)	NP_001257951.1:n.*583A>G