Canonical Allele Identifier: CA907738089

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48463898C>T , CM000665.2:g.48463898C>T	GRCh38
NC_000003.11:g.48505297C>T , CM000665.1:g.48505297C>T	GRCh37
NC_000003.10:g.48480301C>T	NCBI36
NG_009820.1:g.3069C>T
NG_041782.1:g.22189C>T
NG_009820.2:g.3069C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.1882+17C>T MANE Select	NP_569055.1:n.1882+17C>T
ENST00000320211.10:c.1882+17C>T MANE Select	ENSP00000323099.3:n.1882+17C>T
NM_001271022.1:c.1501+17C>T	NP_001257951.1:n.1501+17C>T
NM_001271022.2:c.1501+17C>T	NP_001257951.1:n.1501+17C>T
NM_001271023.1:c.1603+17C>T	NP_001257952.1:n.1603+17C>T
NM_001271023.2:c.1603+17C>T	NP_001257952.1:n.1603+17C>T
NM_032166.3:c.1882+17C>T	NP_115542.2:n.1882+17C>T
NM_032166.4:c.1882+17C>T	NP_115542.2:n.1882+17C>T
NM_130384.2:c.1882+17C>T	NP_569055.1:n.1882+17C>T
NR_153405.1:n.2034+17C>T
ENST00000320211.8:c.1882+17C>T	ENSP00000323099.3:n.1882+17C>T
ENST00000346691.9:c.1882+17C>T	ENSP00000302338.5:n.1882+17C>T
ENST00000357105.10:c.1501+17C>T	ENSP00000349620.6:n.1501+17C>T
ENST00000412052.4:c.1603+17C>T	ENSP00000400930.1:n.1603+17C>T
ENST00000634384.1:c.*1545+17C>T	ENSP00000489041.1:n.*1545+17C>T
ENST00000634384.2:c.1320+17C>T
ENST00000635464.1:c.1678+17C>T	ENSP00000489199.1:n.1678+17C>T
ENST00000639561.1:c.*1545+17C>T	ENSP00000491983.1:n.*1545+17C>T