Canonical Allele Identifier: CA352620234

Linked Data

ClinVar Variation Id: 467832
ClinVar RCV Id: RCV000547786
dbSNP Id: rs1553820567

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48467554C>T , CM000665.2:g.48467554C>T GRCh38
NC_000003.11:g.48508953C>T , CM000665.1:g.48508953C>T GRCh37
NC_000003.10:g.48483957C>T NCBI36
NG_009820.1:g.6725C>T
NG_033100.1:g.38307G>A
NG_041782.1:g.25845C>T
NG_009820.2:g.6725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.*2000C>T (ATRIP) MANE Select ENSP00000323099.3:n.*2000C>T
ENST00000492235.2:c.482C>T (TREX1) ENSP00000494511.1:p.Ala161Val
ENST00000625293.3:c.899C>T (TREX1) MANE Select ENSP00000486676.2:p.Ala300Val
ENST00000634384.2:c.3494C>T (ATRIP)
ENST00000635452.2:c.482C>T (TREX1) ENSP00000492023.2:p.Ala161Val
ENST00000296443.11:c.899C>T ENSP00000296443.11:p.Ala300Val
ENST00000433541.1:c.482C>T (TREX1) ENSP00000412404.1:p.Ala161Val
ENST00000444177.1:c.869C>T (TREX1) ENSP00000415972.1:p.Ala290Val
ENST00000456089.1:c.482C>T (TREX1) ENSP00000411331.1:p.Ala161Val
ENST00000625293.1:c.1064C>T (TREX1) ENSP00000486676.1:p.Ala355Val
ENST00000629913.1:c.899C>T (TREX1) ENSP00000486444.1:p.Ala300Val
ENST00000634384.1:c.*3719C>T ENSP00000489041.1:n.*3719C>T
ENST00000635452.1:n.2106C>T
ENST00000635464.1:c.3852C>T ENSP00000489199.1:n.3852C>T
NM_007248.3:c.869C>T (TREX1) NP_009179.2:p.Ala290Val
NM_016381.5:c.1064C>T (TREX1) NP_057465.1:p.Ala355Val
NM_033629.4:c.899C>T (TREX1) NP_338599.1:p.Ala300Val
NM_007248.4:c.869C>T (TREX1) NP_009179.2:p.Ala290Val
NM_033629.5:c.899C>T (TREX1) NP_338599.1:p.Ala300Val
NR_153405.1:n.4208C>T
NM_033629.6:c.899C>T (TREX1) MANE Select NP_338599.1:p.Ala300Val
NM_130384.3:c.*2000C>T (ATRIP) MANE Select NP_569055.1:n.*2000C>T
NM_001271023.2:c.*2000C>T (ATRIP) NP_001257952.1:n.*2000C>T
NM_007248.5:c.869C>T (TREX1) NP_009179.2:p.Ala290Val
NM_032166.4:c.*2000C>T (ATRIP) NP_115542.2:n.*2000C>T
NM_001271022.2:c.*2000C>T (ATRIP) NP_001257951.1:n.*2000C>T