Canonical Allele Identifier: CA2375901

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48447048C>T , CM000665.2:g.48447048C>T	GRCh38
NC_000003.11:g.48488452C>T , CM000665.1:g.48488452C>T	GRCh37
NC_000003.10:g.48463456C>T	NCBI36
NG_041782.1:g.5339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320211.10:c.203C>T MANE Select	ENSP00000323099.3:p.Ser68Leu
ENST00000639561.1:c.-33+249C>T	ENSP00000491983.1:n.-33+249C>T
ENST00000320211.8:c.203C>T	ENSP00000323099.3:p.Ser68Leu
ENST00000346691.9:c.203C>T	ENSP00000302338.5:p.Ser68Leu
ENST00000357105.10:c.-218+249C>T	ENSP00000349620.6:n.-218+249C>T
ENST00000634384.1:c.-33+249C>T	ENSP00000489041.1:n.-33+249C>T
ENST00000635082.1:c.-33+249C>T	ENSP00000489136.1:n.-33+249C>T
ENST00000635099.1:c.-33+249C>T	ENSP00000489608.1:n.-33+249C>T
ENST00000635464.1:c.203C>T	ENSP00000489199.1:p.Ser68Leu
NM_001271022.1:c.-218+249C>T	NP_001257951.1:n.-218+249C>T
NM_032166.3:c.203C>T	NP_115542.2:p.Ser68Leu
NM_130384.2:c.203C>T	NP_569055.1:p.Ser68Leu
NR_153405.1:n.270C>T
NM_130384.3:c.203C>T MANE Select	NP_569055.1:p.Ser68Leu
NM_032166.4:c.203C>T	NP_115542.2:p.Ser68Leu
NM_001271022.2:c.-218+249C>T	NP_001257951.1:n.-218+249C>T