Canonical Allele Identifier: CA2375942

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48450125C>T , CM000665.2:g.48450125C>T	GRCh38
NC_000003.11:g.48491531C>T , CM000665.1:g.48491531C>T	GRCh37
NC_000003.10:g.48466535C>T	NCBI36
NG_041782.1:g.8416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.336C>T MANE Select	ENSP00000323099.3:p.Phe112=
ENST00000639561.1:c.57C>T	ENSP00000491983.1:p.Phe19=
ENST00000320211.8:c.336C>T	ENSP00000323099.3:p.Phe112=
ENST00000346691.9:c.336C>T	ENSP00000302338.5:p.Phe112=
ENST00000357105.10:c.-129C>T	ENSP00000349620.6:n.-129C>T
ENST00000412052.4:c.57C>T	ENSP00000400930.1:p.Phe19=
ENST00000634384.1:c.57C>T	ENSP00000489041.1:p.Phe19=
ENST00000635082.1:c.57C>T	ENSP00000489136.1:p.Phe19=
ENST00000635099.1:c.57C>T	ENSP00000489608.1:p.Phe19=
ENST00000635464.1:c.336C>T	ENSP00000489199.1:p.Phe112=
NM_001271022.1:c.-129C>T	NP_001257951.1:n.-129C>T
NM_001271023.1:c.57C>T	NP_001257952.1:p.Phe19=
NM_032166.3:c.336C>T	NP_115542.2:p.Phe112=
NM_130384.2:c.336C>T	NP_569055.1:p.Phe112=
NR_153405.1:n.403C>T
NM_130384.3:c.336C>T MANE Select	NP_569055.1:p.Phe112=
NM_001271023.2:c.57C>T	NP_001257952.1:p.Phe19=
NM_032166.4:c.336C>T	NP_115542.2:p.Phe112=
NM_001271022.2:c.-129C>T	NP_001257951.1:n.-129C>T