Canonical Allele Identifier: CA2376117

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48459889C>A , CM000665.2:g.48459889C>A	GRCh38
NC_000003.11:g.48501288C>A , CM000665.1:g.48501288C>A	GRCh37
NC_000003.10:g.48476292C>A	NCBI36
NG_041782.1:g.18180C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.1028C>A MANE Select	ENSP00000323099.3:p.Thr343Asn
ENST00000634384.2:c.466C>A
ENST00000639561.1:c.*691C>A	ENSP00000491983.1:n.*691C>A
ENST00000320211.8:c.1028C>A	ENSP00000323099.3:p.Thr343Asn
ENST00000346691.9:c.1028C>A	ENSP00000302338.5:p.Thr343Asn
ENST00000357105.10:c.647C>A	ENSP00000349620.6:p.Thr216Asn
ENST00000412052.4:c.749C>A	ENSP00000400930.1:p.Thr250Asn
ENST00000634384.1:c.*691C>A	ENSP00000489041.1:n.*691C>A
ENST00000635082.1:c.*195C>A	ENSP00000489136.1:n.*195C>A
ENST00000635464.1:c.1028C>A	ENSP00000489199.1:p.Thr343Asn
NM_001271022.1:c.647C>A	NP_001257951.1:p.Thr216Asn
NM_001271023.1:c.749C>A	NP_001257952.1:p.Thr250Asn
NM_032166.3:c.1028C>A	NP_115542.2:p.Thr343Asn
NM_130384.2:c.1028C>A	NP_569055.1:p.Thr343Asn
NR_153405.1:n.1095C>A
NM_130384.3:c.1028C>A MANE Select	NP_569055.1:p.Thr343Asn
NM_001271023.2:c.749C>A	NP_001257952.1:p.Thr250Asn
NM_032166.4:c.1028C>A	NP_115542.2:p.Thr343Asn
NM_001271022.2:c.647C>A	NP_001257951.1:p.Thr216Asn