Canonical Allele Identifier: CA2242977846

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651294A= , CM000679.2:g.1651294A=	GRCh38
NC_000017.10:g.1554588A= , CM000679.1:g.1554588A=	GRCh37
NC_000017.9:g.1501338A=	NCBI36
NG_009118.1:g.38589T=
NG_033061.1:g.3805T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6487T=	ENSP00000460849.2:p.Cys2163=
ENST00000703537.1:c.2415T=
ENST00000703538.1:c.*6390T=	ENSP00000515361.1:n.*6390T=
ENST00000703539.1:n.2981T=
ENST00000703540.1:c.6520T=	ENSP00000515362.1:p.Cys2174=
ENST00000703541.1:c.6532T=	ENSP00000515363.1:p.Cys2178=
ENST00000304992.11:c.6667T= MANE Select	ENSP00000304350.6:p.Cys2223=
ENST00000304992.10:c.6667T=	ENSP00000304350.6:p.Cys2223=
ENST00000572621.5:c.6667T=	ENSP00000460348.1:p.Cys2223=
ENST00000572723.1:n.656T=
NM_006445.3:c.6667T=	NP_006436.3:p.Cys2223=
XM_024450537.1:c.6667T=	XP_024306305.1:p.Cys2223=
NM_006445.4:c.6667T= MANE Select	NP_006436.3:p.Cys2223=