Canonical Allele Identifier: CA352703443

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48447019C>G , CM000665.2:g.48447019C>G	GRCh38
NC_000003.11:g.48488423C>G , CM000665.1:g.48488423C>G	GRCh37
NC_000003.10:g.48463427C>G	NCBI36
NG_041782.1:g.5310C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.174C>G MANE Select	ENSP00000323099.3:p.Asp58Glu
ENST00000639561.1:c.-33+220C>G	ENSP00000491983.1:n.-33+220C>G
ENST00000320211.8:c.174C>G	ENSP00000323099.3:p.Asp58Glu
ENST00000346691.9:c.174C>G	ENSP00000302338.5:p.Asp58Glu
ENST00000357105.10:c.-218+220C>G	ENSP00000349620.6:n.-218+220C>G
ENST00000634384.1:c.-33+220C>G	ENSP00000489041.1:n.-33+220C>G
ENST00000635082.1:c.-33+220C>G	ENSP00000489136.1:n.-33+220C>G
ENST00000635099.1:c.-33+220C>G	ENSP00000489608.1:n.-33+220C>G
ENST00000635464.1:c.174C>G	ENSP00000489199.1:p.Asp58Glu
NM_001271022.1:c.-218+220C>G	NP_001257951.1:n.-218+220C>G
NM_032166.3:c.174C>G	NP_115542.2:p.Asp58Glu
NM_130384.2:c.174C>G	NP_569055.1:p.Asp58Glu
NR_153405.1:n.241C>G
NM_130384.3:c.174C>G MANE Select	NP_569055.1:p.Asp58Glu
NM_032166.4:c.174C>G	NP_115542.2:p.Asp58Glu
NM_001271022.2:c.-218+220C>G	NP_001257951.1:n.-218+220C>G