Canonical Allele Identifier: CA306278230

Gene: UPF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18857431C>T , CM000681.2:g.18857431C>T	GRCh38
NC_000019.9:g.18968240C>T , CM000681.1:g.18968240C>T	GRCh37
NC_000019.8:g.18829240C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002911.4:c.2080C>T MANE Select	NP_002902.2:p.Arg694Trp
ENST00000262803.10:c.2080C>T MANE Select	ENSP00000262803.5:p.Arg694Trp
NM_001297549.1:c.2113C>T	NP_001284478.1:p.Arg705Trp
NM_001297549.2:c.2113C>T	NP_001284478.1:p.Arg705Trp
NM_002911.3:c.2080C>T	NP_002902.2:p.Arg694Trp
ENST00000262803.9:c.2080C>T	ENSP00000262803.4:p.Arg694Trp
ENST00000594504.6:n.2398C>T
ENST00000599848.5:c.2113C>T	ENSP00000470142.1:p.Arg705Trp
ENST00000601981.6:n.2003C>T
ENST00000704676.1:c.2065C>T	ENSP00000515988.1:p.Arg689Trp
ENST00000704677.1:c.*911C>T	ENSP00000515989.1:n.*911C>T
ENST00000704679.1:n.1670C>T
XM_017027105.2:c.2137C>T	XP_016882594.1:p.Arg713Trp
XM_017027106.2:c.2104C>T	XP_016882595.1:p.Arg702Trp