Canonical Allele Identifier: CA352704132

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48447080C>T , CM000665.2:g.48447080C>T	GRCh38
NC_000003.11:g.48488484C>T , CM000665.1:g.48488484C>T	GRCh37
NC_000003.10:g.48463488C>T	NCBI36
NG_041782.1:g.5371C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.235C>T MANE Select	NP_569055.1:p.Arg79Trp
ENST00000320211.10:c.235C>T MANE Select	ENSP00000323099.3:p.Arg79Trp
NM_001271022.1:c.-218+281C>T	NP_001257951.1:n.-218+281C>T
NM_001271022.2:c.-218+281C>T	NP_001257951.1:n.-218+281C>T
NM_032166.3:c.235C>T	NP_115542.2:p.Arg79Trp
NM_032166.4:c.235C>T	NP_115542.2:p.Arg79Trp
NM_130384.2:c.235C>T	NP_569055.1:p.Arg79Trp
NR_153405.1:n.302C>T
ENST00000320211.8:c.235C>T	ENSP00000323099.3:p.Arg79Trp
ENST00000346691.9:c.235C>T	ENSP00000302338.5:p.Arg79Trp
ENST00000357105.10:c.-218+281C>T	ENSP00000349620.6:n.-218+281C>T
ENST00000634384.1:c.-33+281C>T	ENSP00000489041.1:n.-33+281C>T
ENST00000635082.1:c.-33+281C>T	ENSP00000489136.1:n.-33+281C>T
ENST00000635099.1:c.-33+281C>T	ENSP00000489608.1:n.-33+281C>T
ENST00000635464.1:c.235C>T	ENSP00000489199.1:p.Arg79Trp
ENST00000639561.1:c.-33+281C>T	ENSP00000491983.1:n.-33+281C>T