Canonical Allele Identifier: CA404884895

Gene: UPF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18856896G>A , CM000681.2:g.18856896G>A	GRCh38
NC_000019.9:g.18967705G>A , CM000681.1:g.18967705G>A	GRCh37
NC_000019.8:g.18828705G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002911.4:c.1844G>A MANE Select	NP_002902.2:p.Cys615Tyr
ENST00000262803.10:c.1844G>A MANE Select	ENSP00000262803.5:p.Cys615Tyr
NM_001297549.1:c.1877G>A	NP_001284478.1:p.Cys626Tyr
NM_001297549.2:c.1877G>A	NP_001284478.1:p.Cys626Tyr
NM_002911.3:c.1844G>A	NP_002902.2:p.Cys615Tyr
ENST00000262803.9:c.1844G>A	ENSP00000262803.4:p.Cys615Tyr
ENST00000594504.6:n.2162G>A
ENST00000599848.5:c.1877G>A	ENSP00000470142.1:p.Cys626Tyr
ENST00000601981.6:n.1767G>A
ENST00000704676.1:c.1829G>A	ENSP00000515988.1:p.Cys610Tyr
ENST00000704677.1:c.*675G>A	ENSP00000515989.1:n.*675G>A
ENST00000704679.1:n.1434G>A
XM_017027105.2:c.1901G>A	XP_016882594.1:p.Cys634Tyr
XM_017027106.2:c.1868G>A	XP_016882595.1:p.Cys623Tyr