Canonical Allele Identifier: CA10616199

Gene: ATRIP TREX1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48465821T>C , CM000665.2:g.48465821T>C	GRCh38
NC_000003.11:g.48507220T>C , CM000665.1:g.48507220T>C	GRCh37
NC_000003.10:g.48482224T>C	NCBI36
NG_009820.1:g.4992T>C
NG_033100.1:g.40040A>G
NG_041782.1:g.24112T>C
NG_009820.2:g.4992T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.*267T>C (ATRIP) MANE Select	NP_569055.1:n.*267T>C
ENST00000320211.10:c.*267T>C (ATRIP) MANE Select	ENSP00000323099.3:n.*267T>C
NM_001271022.2:c.*267T>C (ATRIP)	NP_001257951.1:n.*267T>C
NM_001271023.2:c.*267T>C (ATRIP)	NP_001257952.1:n.*267T>C
NM_007248.3:c.-367T>C (TREX1)	NP_009179.2:n.-367T>C
NM_016381.5:c.-670T>C (TREX1)	NP_057465.1:n.-670T>C
NM_032166.4:c.*267T>C (ATRIP)	NP_115542.2:n.*267T>C
NM_033629.4:c.-515T>C (TREX1)	NP_338599.1:n.-515T>C
NR_153405.1:n.2795T>C
ENST00000296443.11:c.-515T>C	ENSP00000296443.11:n.-515T>C
ENST00000433541.1:c.-522T>C (TREX1)	ENSP00000412404.1:n.-522T>C
ENST00000634384.1:c.*2306T>C	ENSP00000489041.1:n.*2306T>C
ENST00000634384.2:c.2081T>C (ATRIP)
ENST00000635452.1:n.373T>C
ENST00000635464.1:c.2439T>C	ENSP00000489199.1:n.2439T>C