Canonical Allele Identifier: CA397561739

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650819C>T , CM000679.2:g.1650819C>T	GRCh38
NC_000017.10:g.1554113C>T , CM000679.1:g.1554113C>T	GRCh37
NC_000017.9:g.1500863C>T	NCBI36
NG_009118.1:g.39064G>A
NG_033061.1:g.4280G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.6991G>A MANE Select	NP_006436.3:p.Glu2331Lys
ENST00000304992.11:c.6991G>A MANE Select	ENSP00000304350.6:p.Glu2331Lys
NM_006445.3:c.6991G>A	NP_006436.3:p.Glu2331Lys
ENST00000304992.10:c.6991G>A	ENSP00000304350.6:p.Glu2331Lys
ENST00000571958.1:c.190G>A
ENST00000572621.5:c.6991G>A	ENSP00000460348.1:p.Glu2331Lys
ENST00000573725.2:c.6811G>A	ENSP00000460849.2:p.Glu2271Lys
ENST00000703537.1:c.2739G>A
ENST00000703538.1:c.*6714G>A	ENSP00000515361.1:n.*6714G>A
ENST00000703539.1:n.3305G>A
ENST00000703540.1:c.6844G>A	ENSP00000515362.1:p.Glu2282Lys
ENST00000703541.1:c.6856G>A	ENSP00000515363.1:p.Glu2286Lys
XM_024450537.1:c.6991G>A	XP_024306305.1:p.Glu2331Lys