Canonical Allele Identifier: CA352617045

Gene: ATRIP TREX1

Linked Data

• gnomAD v4: 3-48466717-C-T
• MyVariant Identifiers: chr3:g.48508116C>T (hg19) ; chr3:g.48466717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48466717C>T , CM000665.2:g.48466717C>T	GRCh38
NC_000003.11:g.48508116C>T , CM000665.1:g.48508116C>T	GRCh37
NC_000003.10:g.48483120C>T	NCBI36
NG_009820.1:g.5888C>T
NG_033100.1:g.39144G>A
NG_041782.1:g.25008C>T
NG_009820.2:g.5888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.*1163C>T (ATRIP) MANE Select	ENSP00000323099.3:n.*1163C>T
ENST00000492235.2:c.-295-61C>T (TREX1)	ENSP00000494511.1:n.-295-61C>T
ENST00000625293.3:c.62C>T (TREX1) MANE Select	ENSP00000486676.2:p.Ala21Val
ENST00000634384.2:c.2657C>T (ATRIP)
ENST00000635452.2:c.-333-23C>T (TREX1)	ENSP00000492023.2:n.-333-23C>T
ENST00000296443.11:c.62C>T	ENSP00000296443.11:p.Ala21Val
ENST00000433541.1:c.-333-23C>T (TREX1)	ENSP00000412404.1:n.-333-23C>T
ENST00000444177.1:c.32C>T (TREX1)	ENSP00000415972.1:p.Ala11Val
ENST00000456089.1:c.-8-348C>T (TREX1)	ENSP00000411331.1:n.-8-348C>T
ENST00000492235.1:n.41-61C>T (TREX1)
ENST00000625293.1:c.227C>T (TREX1)	ENSP00000486676.1:p.Ala76Val
ENST00000629913.1:c.62C>T (TREX1)	ENSP00000486444.1:p.Ala21Val
ENST00000634384.1:c.*2882C>T	ENSP00000489041.1:n.*2882C>T
ENST00000635452.1:n.1269C>T
ENST00000635464.1:c.3015C>T	ENSP00000489199.1:n.3015C>T
NM_007248.3:c.32C>T (TREX1)	NP_009179.2:p.Ala11Val
NM_016381.5:c.227C>T (TREX1)	NP_057465.1:p.Ala76Val
NM_033629.4:c.62C>T (TREX1)	NP_338599.1:p.Ala21Val
NM_007248.4:c.32C>T (TREX1)	NP_009179.2:p.Ala11Val
NM_033629.5:c.62C>T (TREX1)	NP_338599.1:p.Ala21Val
NR_153405.1:n.3371C>T
NM_033629.6:c.62C>T (TREX1) MANE Select	NP_338599.1:p.Ala21Val
NM_130384.3:c.*1163C>T (ATRIP) MANE Select	NP_569055.1:n.*1163C>T
NM_001271023.2:c.*1163C>T (ATRIP)	NP_001257952.1:n.*1163C>T
NM_007248.5:c.32C>T (TREX1)	NP_009179.2:p.Ala11Val
NM_032166.4:c.*1163C>T (ATRIP)	NP_115542.2:n.*1163C>T
NM_001271022.2:c.*1163C>T (ATRIP)	NP_001257951.1:n.*1163C>T