Canonical Allele Identifier: CA352720264

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48460120G>C , CM000665.2:g.48460120G>C	GRCh38
NC_000003.11:g.48501519G>C , CM000665.1:g.48501519G>C	GRCh37
NC_000003.10:g.48476523G>C	NCBI36
NG_041782.1:g.18411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.1066G>C MANE Select	ENSP00000323099.3:p.Gly356Arg
ENST00000634384.2:c.504G>C
ENST00000639561.1:c.*729G>C	ENSP00000491983.1:n.*729G>C
ENST00000320211.8:c.1066G>C	ENSP00000323099.3:p.Gly356Arg
ENST00000346691.9:c.1066G>C	ENSP00000302338.5:p.Gly356Arg
ENST00000357105.10:c.685G>C	ENSP00000349620.6:p.Gly229Arg
ENST00000412052.4:c.787G>C	ENSP00000400930.1:p.Gly263Arg
ENST00000634384.1:c.*729G>C	ENSP00000489041.1:n.*729G>C
ENST00000635082.1:c.*233G>C	ENSP00000489136.1:n.*233G>C
ENST00000635464.1:c.1066G>C	ENSP00000489199.1:p.Gly356Arg
NM_001271022.1:c.685G>C	NP_001257951.1:p.Gly229Arg
NM_001271023.1:c.787G>C	NP_001257952.1:p.Gly263Arg
NM_032166.3:c.1066G>C	NP_115542.2:p.Gly356Arg
NM_130384.2:c.1066G>C	NP_569055.1:p.Gly356Arg
NR_153405.1:n.1133G>C
NM_130384.3:c.1066G>C MANE Select	NP_569055.1:p.Gly356Arg
NM_001271023.2:c.787G>C	NP_001257952.1:p.Gly263Arg
NM_032166.4:c.1066G>C	NP_115542.2:p.Gly356Arg
NM_001271022.2:c.685G>C	NP_001257951.1:p.Gly229Arg