Canonical Allele Identifier: CA352729538

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48463795C>A , CM000665.2:g.48463795C>A	GRCh38
NC_000003.11:g.48505194C>A , CM000665.1:g.48505194C>A	GRCh37
NC_000003.10:g.48480198C>A	NCBI36
NG_009820.1:g.2966C>A
NG_041782.1:g.22086C>A
NG_009820.2:g.2966C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.1796C>A MANE Select	NP_569055.1:p.Pro599His
ENST00000320211.10:c.1796C>A MANE Select	ENSP00000323099.3:p.Pro599His
NM_001271022.1:c.1415C>A	NP_001257951.1:p.Pro472His
NM_001271022.2:c.1415C>A	NP_001257951.1:p.Pro472His
NM_001271023.1:c.1517C>A	NP_001257952.1:p.Pro506His
NM_001271023.2:c.1517C>A	NP_001257952.1:p.Pro506His
NM_032166.3:c.1796C>A	NP_115542.2:p.Pro599His
NM_032166.4:c.1796C>A	NP_115542.2:p.Pro599His
NM_130384.2:c.1796C>A	NP_569055.1:p.Pro599His
NR_153405.1:n.1948C>A
ENST00000320211.8:c.1796C>A	ENSP00000323099.3:p.Pro599His
ENST00000346691.9:c.1796C>A	ENSP00000302338.5:p.Pro599His
ENST00000357105.10:c.1415C>A	ENSP00000349620.6:p.Pro472His
ENST00000412052.4:c.1517C>A	ENSP00000400930.1:p.Pro506His
ENST00000634384.1:c.*1459C>A	ENSP00000489041.1:n.*1459C>A
ENST00000634384.2:c.1234C>A
ENST00000635464.1:c.1592C>A	ENSP00000489199.1:n.1592C>A
ENST00000639561.1:c.*1459C>A	ENSP00000491983.1:n.*1459C>A