Canonical Allele Identifier: CA2376053

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48457382G>A , CM000665.2:g.48457382G>A	GRCh38
NC_000003.11:g.48498782G>A , CM000665.1:g.48498782G>A	GRCh37
NC_000003.10:g.48473786G>A	NCBI36
NG_041782.1:g.15673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.795G>A MANE Select	ENSP00000323099.3:p.Thr265=
ENST00000634384.2:c.233G>A
ENST00000639561.1:c.*458G>A	ENSP00000491983.1:n.*458G>A
ENST00000320211.8:c.795G>A	ENSP00000323099.3:p.Thr265=
ENST00000346691.9:c.795G>A	ENSP00000302338.5:p.Thr265=
ENST00000357105.10:c.414G>A	ENSP00000349620.6:p.Thr138=
ENST00000412052.4:c.516G>A	ENSP00000400930.1:p.Thr172=
ENST00000634384.1:c.*458G>A	ENSP00000489041.1:n.*458G>A
ENST00000635082.1:c.393-1977G>A	ENSP00000489136.1:n.393-1977G>A
ENST00000635084.1:n.185G>A
ENST00000635099.1:c.516G>A	ENSP00000489608.1:p.Thr172=
ENST00000635464.1:c.795G>A	ENSP00000489199.1:p.Thr265=
NM_001271022.1:c.414G>A	NP_001257951.1:p.Thr138=
NM_001271023.1:c.516G>A	NP_001257952.1:p.Thr172=
NM_032166.3:c.795G>A	NP_115542.2:p.Thr265=
NM_130384.2:c.795G>A	NP_569055.1:p.Thr265=
NR_153405.1:n.862G>A
NM_130384.3:c.795G>A MANE Select	NP_569055.1:p.Thr265=
NM_001271023.2:c.516G>A	NP_001257952.1:p.Thr172=
NM_032166.4:c.795G>A	NP_115542.2:p.Thr265=
NM_001271022.2:c.414G>A	NP_001257951.1:p.Thr138=