Canonical Allele Identifier: CA2838527626

Gene: UPF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18850922G>T , CM000681.2:g.18850922G>T	GRCh38
NC_000019.9:g.18961731G>T , CM000681.1:g.18961731G>T	GRCh37
NC_000019.8:g.18822731G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594504.6:n.1095+54G>T
ENST00000601981.6:n.733+54G>T
ENST00000704676.1:c.810+54G>T	ENSP00000515988.1:n.810+54G>T
ENST00000704677.1:c.810+54G>T	ENSP00000515989.1:n.810+54G>T
ENST00000704678.1:c.810+54G>T	ENSP00000515990.1:n.810+54G>T
ENST00000704679.1:n.400+54G>T
ENST00000262803.10:c.810+54G>T MANE Select	ENSP00000262803.5:n.810+54G>T
ENST00000262803.9:c.810+54G>T	ENSP00000262803.4:n.810+54G>T
ENST00000598209.5:n.449+54G>T
ENST00000598471.1:n.522+54G>T
ENST00000599848.5:c.810+54G>T	ENSP00000470142.1:n.810+54G>T
ENST00000600012.5:n.373+54G>T
ENST00000600310.5:n.630+54G>T
ENST00000600868.5:n.418+54G>T
NM_001297549.1:c.810+54G>T	NP_001284478.1:n.810+54G>T
NM_002911.3:c.810+54G>T	NP_002902.2:n.810+54G>T
XM_017027105.2:c.810+54G>T	XP_016882594.1:n.810+54G>T
XM_017027106.2:c.810+54G>T	XP_016882595.1:n.810+54G>T
NM_001297549.2:c.810+54G>T	NP_001284478.1:n.810+54G>T
NM_002911.4:c.810+54G>T MANE Select	NP_002902.2:n.810+54G>T