Canonical Allele Identifier: CA10619060

Gene: ATRIP TREX1

Linked Data

• ClinVar Variation Id: 345767
• ClinVar RCV Id: RCV000282621 ; RCV000337669
• dbSNP Id: rs548710061
• gnomAD v2: 3-48507618-C-T
• gnomAD v3: 3-48466219-C-T
• gnomAD v4: 3-48466219-C-T
• MyVariant Identifiers: chr3:g.48507618C>T (hg19) ; chr3:g.48466219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466219C>T , CM000665.2:g.48466219C>T	GRCh38
NC_000003.11:g.48507618C>T , CM000665.1:g.48507618C>T	GRCh37
NC_000003.10:g.48482622C>T	NCBI36
NG_009820.1:g.5390C>T
NG_033100.1:g.39642G>A
NG_041782.1:g.24510C>T
NG_009820.2:g.5390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*665C>T (ATRIP) MANE Select	ENSP00000323099.3:n.*665C>T
ENST00000634384.2:c.2479C>T (ATRIP)
ENST00000296443.11:c.-117C>T	ENSP00000296443.11:n.-117C>T
ENST00000433541.1:c.-404-32C>T (TREX1)	ENSP00000412404.1:n.-404-32C>T
ENST00000444177.1:c.-19+50C>T (TREX1)	ENSP00000415972.1:n.-19+50C>T
ENST00000625293.1:c.-272C>T (TREX1)	ENSP00000486676.1:n.-272C>T
ENST00000629913.1:c.-117C>T (TREX1)	ENSP00000486444.1:n.-117C>T
ENST00000634384.1:c.*2704C>T	ENSP00000489041.1:n.*2704C>T
ENST00000635452.1:n.771C>T
ENST00000635464.1:c.2837C>T	ENSP00000489199.1:n.2837C>T
NM_007248.3:c.-19+50C>T (TREX1)	NP_009179.2:n.-19+50C>T
NM_016381.5:c.-272C>T (TREX1)	NP_057465.1:n.-272C>T
NM_033629.4:c.-117C>T (TREX1)	NP_338599.1:n.-117C>T
NM_007248.4:c.-19+50C>T (TREX1)	NP_009179.2:n.-19+50C>T
NR_153405.1:n.3193C>T
NM_130384.3:c.*665C>T (ATRIP) MANE Select	NP_569055.1:n.*665C>T
NM_001271023.2:c.*665C>T (ATRIP)	NP_001257952.1:n.*665C>T
NM_007248.5:c.-19+50C>T (TREX1)	NP_009179.2:n.-19+50C>T
NM_032166.4:c.*665C>T (ATRIP)	NP_115542.2:n.*665C>T
NM_001271022.2:c.*665C>T (ATRIP)	NP_001257951.1:n.*665C>T