Canonical Allele Identifier: CA2376293

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48463848G>A , CM000665.2:g.48463848G>A	GRCh38
NC_000003.11:g.48505247G>A , CM000665.1:g.48505247G>A	GRCh37
NC_000003.10:g.48480251G>A	NCBI36
NG_009820.1:g.3019G>A
NG_041782.1:g.22139G>A
NG_009820.2:g.3019G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.1849G>A MANE Select	NP_569055.1:p.Asp617Asn
ENST00000320211.10:c.1849G>A MANE Select	ENSP00000323099.3:p.Asp617Asn
NM_001271022.1:c.1468G>A	NP_001257951.1:p.Asp490Asn
NM_001271022.2:c.1468G>A	NP_001257951.1:p.Asp490Asn
NM_001271023.1:c.1570G>A	NP_001257952.1:p.Asp524Asn
NM_001271023.2:c.1570G>A	NP_001257952.1:p.Asp524Asn
NM_032166.3:c.1849G>A	NP_115542.2:p.Asp617Asn
NM_032166.4:c.1849G>A	NP_115542.2:p.Asp617Asn
NM_130384.2:c.1849G>A	NP_569055.1:p.Asp617Asn
NR_153405.1:n.2001G>A
ENST00000320211.8:c.1849G>A	ENSP00000323099.3:p.Asp617Asn
ENST00000346691.9:c.1849G>A	ENSP00000302338.5:p.Asp617Asn
ENST00000357105.10:c.1468G>A	ENSP00000349620.6:p.Asp490Asn
ENST00000412052.4:c.1570G>A	ENSP00000400930.1:p.Asp524Asn
ENST00000634384.1:c.*1512G>A	ENSP00000489041.1:n.*1512G>A
ENST00000634384.2:c.1287G>A
ENST00000635464.1:c.1645G>A	ENSP00000489199.1:n.1645G>A
ENST00000639561.1:c.*1512G>A	ENSP00000491983.1:n.*1512G>A