Canonical Allele Identifier: CA2376360

Gene: ATRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48464650G>C , CM000665.2:g.48464650G>C	GRCh38
NC_000003.11:g.48506049G>C , CM000665.1:g.48506049G>C	GRCh37
NC_000003.10:g.48481053G>C	NCBI36
NG_009820.1:g.3821G>C
NG_041782.1:g.22941G>C
NG_009820.2:g.3821G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_130384.3:c.2043G>C MANE Select	NP_569055.1:p.Gln681His
ENST00000320211.10:c.2043G>C MANE Select	ENSP00000323099.3:p.Gln681His
NM_001271022.1:c.1662G>C	NP_001257951.1:p.Gln554His
NM_001271022.2:c.1662G>C	NP_001257951.1:p.Gln554His
NM_001271023.1:c.1764G>C	NP_001257952.1:p.Gln588His
NM_001271023.2:c.1764G>C	NP_001257952.1:p.Gln588His
NM_032166.3:c.1975-181G>C	NP_115542.2:n.1975-181G>C
NM_032166.4:c.1975-181G>C	NP_115542.2:n.1975-181G>C
NM_130384.2:c.2043G>C	NP_569055.1:p.Gln681His
NR_153405.1:n.2195G>C
ENST00000320211.8:c.2043G>C	ENSP00000323099.3:p.Gln681His
ENST00000346691.9:c.1975-181G>C	ENSP00000302338.5:n.1975-181G>C
ENST00000357105.10:c.1662G>C	ENSP00000349620.6:p.Gln554His
ENST00000412052.4:c.1764G>C	ENSP00000400930.1:p.Gln588His
ENST00000634384.1:c.*1706G>C	ENSP00000489041.1:n.*1706G>C
ENST00000634384.2:c.1481G>C
ENST00000635464.1:c.1839G>C	ENSP00000489199.1:n.1839G>C
ENST00000639561.1:c.*1706G>C	ENSP00000491983.1:n.*1706G>C