Canonical Allele Identifier: CA404870740

Gene: UPF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18850100G>A , CM000681.2:g.18850100G>A	GRCh38
NC_000019.9:g.18960909G>A , CM000681.1:g.18960909G>A	GRCh37
NC_000019.8:g.18821909G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002911.4:c.487G>A MANE Select	NP_002902.2:p.Ala163Thr
ENST00000262803.10:c.487G>A MANE Select	ENSP00000262803.5:p.Ala163Thr
NM_001297549.1:c.487G>A	NP_001284478.1:p.Ala163Thr
NM_001297549.2:c.487G>A	NP_001284478.1:p.Ala163Thr
NM_002911.3:c.487G>A	NP_002902.2:p.Ala163Thr
ENST00000262803.9:c.487G>A	ENSP00000262803.4:p.Ala163Thr
ENST00000594504.5:n.328G>A
ENST00000594504.6:n.772G>A
ENST00000598209.5:n.126G>A
ENST00000598471.1:n.199G>A
ENST00000599848.5:c.487G>A	ENSP00000470142.1:p.Ala163Thr
ENST00000600012.5:n.50G>A
ENST00000600310.5:n.307G>A
ENST00000600868.5:n.95G>A
ENST00000601981.5:n.410G>A
ENST00000601981.6:n.410G>A
ENST00000704676.1:c.487G>A	ENSP00000515988.1:p.Ala163Thr
ENST00000704677.1:c.487G>A	ENSP00000515989.1:p.Ala163Thr
ENST00000704678.1:c.487G>A	ENSP00000515990.1:p.Ala163Thr
ENST00000704679.1:n.77G>A
XM_017027105.2:c.487G>A	XP_016882594.1:p.Ala163Thr
XM_017027106.2:c.487G>A	XP_016882595.1:p.Ala163Thr