Canonical Allele Identifier: CA397572822

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1658594C>T , CM000679.2:g.1658594C>T	GRCh38
NC_000017.10:g.1561888C>T , CM000679.1:g.1561888C>T	GRCh37
NC_000017.9:g.1508638C>T	NCBI36
NG_009118.1:g.31289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.5128G>A	ENSP00000460849.2:p.Glu1710Lys
ENST00000703537.1:c.1119G>A
ENST00000703538.1:c.*5031G>A	ENSP00000515361.1:n.*5031G>A
ENST00000703539.1:n.1622G>A
ENST00000703540.1:c.5161G>A	ENSP00000515362.1:p.Glu1721Lys
ENST00000703541.1:c.5173G>A	ENSP00000515363.1:p.Glu1725Lys
ENST00000304992.11:c.5308G>A MANE Select	ENSP00000304350.6:p.Glu1770Lys
ENST00000304992.10:c.5308G>A	ENSP00000304350.6:p.Glu1770Lys
ENST00000572621.5:c.5308G>A	ENSP00000460348.1:p.Glu1770Lys
NM_006445.3:c.5308G>A	NP_006436.3:p.Glu1770Lys
XM_024450537.1:c.5308G>A	XP_024306305.1:p.Glu1770Lys
NM_006445.4:c.5308G>A MANE Select	NP_006436.3:p.Glu1770Lys