Canonical Allele Identifier: CA2376236

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48460680T>G , CM000665.2:g.48460680T>G	GRCh38
NC_000003.11:g.48502079T>G , CM000665.1:g.48502079T>G	GRCh37
NC_000003.10:g.48477083T>G	NCBI36
NG_041782.1:g.18971T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.1626T>G MANE Select	NP_569055.1:p.Leu542=
ENST00000320211.10:c.1626T>G MANE Select	ENSP00000323099.3:p.Leu542=
NM_001271022.1:c.1245T>G	NP_001257951.1:p.Leu415=
NM_001271022.2:c.1245T>G	NP_001257951.1:p.Leu415=
NM_001271023.1:c.1347T>G	NP_001257952.1:p.Leu449=
NM_001271023.2:c.1347T>G	NP_001257952.1:p.Leu449=
NM_032166.3:c.1626T>G	NP_115542.2:p.Leu542=
NM_032166.4:c.1626T>G	NP_115542.2:p.Leu542=
NM_130384.2:c.1626T>G	NP_569055.1:p.Leu542=
NR_153405.1:n.1693T>G
ENST00000320211.8:c.1626T>G	ENSP00000323099.3:p.Leu542=
ENST00000346691.9:c.1626T>G	ENSP00000302338.5:p.Leu542=
ENST00000357105.10:c.1245T>G	ENSP00000349620.6:p.Leu415=
ENST00000412052.4:c.1347T>G	ENSP00000400930.1:p.Leu449=
ENST00000634384.1:c.*1289T>G	ENSP00000489041.1:n.*1289T>G
ENST00000634384.2:c.1064T>G
ENST00000635464.1:c.1366-29T>G	ENSP00000489199.1:n.1366-29T>G
ENST00000639561.1:c.*1289T>G	ENSP00000491983.1:n.*1289T>G