Canonical Allele Identifier: CA2376243
Gene: ATRIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48460740C>T , CM000665.2:g.48460740C>T GRCh38
NC_000003.11:g.48502139C>T , CM000665.1:g.48502139C>T GRCh37
NC_000003.10:g.48477143C>T NCBI36
NG_041782.1:g.19031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320211.10:c.1686C>T MANE Select ENSP00000323099.3:p.Thr562=
ENST00000634384.2:c.1124C>T
ENST00000639561.1:c.*1349C>T ENSP00000491983.1:n.*1349C>T
ENST00000320211.8:c.1686C>T ENSP00000323099.3:p.Thr562=
ENST00000346691.9:c.1686C>T ENSP00000302338.5:p.Thr562=
ENST00000357105.10:c.1305C>T ENSP00000349620.6:p.Thr435=
ENST00000412052.4:c.1407C>T ENSP00000400930.1:p.Thr469=
ENST00000634384.1:c.*1349C>T ENSP00000489041.1:n.*1349C>T
ENST00000635464.1:c.1397C>T ENSP00000489199.1:n.1397C>T
NM_001271022.1:c.1305C>T NP_001257951.1:p.Thr435=
NM_001271023.1:c.1407C>T NP_001257952.1:p.Thr469=
NM_032166.3:c.1686C>T NP_115542.2:p.Thr562=
NM_130384.2:c.1686C>T NP_569055.1:p.Thr562=
NR_153405.1:n.1753C>T
NM_130384.3:c.1686C>T MANE Select NP_569055.1:p.Thr562=
NM_001271023.2:c.1407C>T NP_001257952.1:p.Thr469=
NM_032166.4:c.1686C>T NP_115542.2:p.Thr562=
NM_001271022.2:c.1305C>T NP_001257951.1:p.Thr435=