Canonical Allele Identifier: CA2375989

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48451813C>G , CM000665.2:g.48451813C>G	GRCh38
NC_000003.11:g.48493219C>G , CM000665.1:g.48493219C>G	GRCh37
NC_000003.10:g.48468223C>G	NCBI36
NG_041782.1:g.10104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.466C>G MANE Select	ENSP00000323099.3:p.Leu156Val
ENST00000639561.1:c.*129C>G	ENSP00000491983.1:n.*129C>G
ENST00000320211.8:c.466C>G	ENSP00000323099.3:p.Leu156Val
ENST00000346691.9:c.466C>G	ENSP00000302338.5:p.Leu156Val
ENST00000357105.10:c.85C>G	ENSP00000349620.6:p.Leu29Val
ENST00000412052.4:c.187C>G	ENSP00000400930.1:p.Leu63Val
ENST00000634384.1:c.*129C>G	ENSP00000489041.1:n.*129C>G
ENST00000635082.1:c.187C>G	ENSP00000489136.1:p.Leu63Val
ENST00000635099.1:c.187C>G	ENSP00000489608.1:p.Leu63Val
ENST00000635464.1:c.466C>G	ENSP00000489199.1:p.Leu156Val
NM_001271022.1:c.85C>G	NP_001257951.1:p.Leu29Val
NM_001271023.1:c.187C>G	NP_001257952.1:p.Leu63Val
NM_032166.3:c.466C>G	NP_115542.2:p.Leu156Val
NM_130384.2:c.466C>G	NP_569055.1:p.Leu156Val
NR_153405.1:n.533C>G
NM_130384.3:c.466C>G MANE Select	NP_569055.1:p.Leu156Val
NM_001271023.2:c.187C>G	NP_001257952.1:p.Leu63Val
NM_032166.4:c.466C>G	NP_115542.2:p.Leu156Val
NM_001271022.2:c.85C>G	NP_001257951.1:p.Leu29Val