Canonical Allele Identifier: CA2376188

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48460405A>T , CM000665.2:g.48460405A>T	GRCh38
NC_000003.11:g.48501804A>T , CM000665.1:g.48501804A>T	GRCh37
NC_000003.10:g.48476808A>T	NCBI36
NG_041782.1:g.18696A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.1351A>T MANE Select	NP_569055.1:p.Thr451Ser
ENST00000320211.10:c.1351A>T MANE Select	ENSP00000323099.3:p.Thr451Ser
NM_001271022.1:c.970A>T	NP_001257951.1:p.Thr324Ser
NM_001271022.2:c.970A>T	NP_001257951.1:p.Thr324Ser
NM_001271023.1:c.1072A>T	NP_001257952.1:p.Thr358Ser
NM_001271023.2:c.1072A>T	NP_001257952.1:p.Thr358Ser
NM_032166.3:c.1351A>T	NP_115542.2:p.Thr451Ser
NM_032166.4:c.1351A>T	NP_115542.2:p.Thr451Ser
NM_130384.2:c.1351A>T	NP_569055.1:p.Thr451Ser
NR_153405.1:n.1418A>T
ENST00000320211.8:c.1351A>T	ENSP00000323099.3:p.Thr451Ser
ENST00000346691.9:c.1351A>T	ENSP00000302338.5:p.Thr451Ser
ENST00000357105.10:c.970A>T	ENSP00000349620.6:p.Thr324Ser
ENST00000412052.4:c.1072A>T	ENSP00000400930.1:p.Thr358Ser
ENST00000634384.1:c.*1014A>T	ENSP00000489041.1:n.*1014A>T
ENST00000634384.2:c.789A>T
ENST00000635464.1:c.1351A>T	ENSP00000489199.1:p.Thr451Ser
ENST00000639561.1:c.*1014A>T	ENSP00000491983.1:n.*1014A>T