Canonical Allele Identifier: CA2242977378

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650904T= , CM000679.2:g.1650904T=	GRCh38
NC_000017.10:g.1554198T= , CM000679.1:g.1554198T=	GRCh37
NC_000017.9:g.1500948T=	NCBI36
NG_009118.1:g.38979A=
NG_033061.1:g.4195A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6726A=	ENSP00000460849.2:p.Lys2242=
ENST00000703537.1:c.2654A=
ENST00000703538.1:c.*6629A=	ENSP00000515361.1:n.*6629A=
ENST00000703539.1:n.3220A=
ENST00000703540.1:c.6759A=	ENSP00000515362.1:p.Lys2253=
ENST00000703541.1:c.6771A=	ENSP00000515363.1:p.Lys2257=
ENST00000304992.11:c.6906A= MANE Select	ENSP00000304350.6:p.Lys2302=
ENST00000304992.10:c.6906A=	ENSP00000304350.6:p.Lys2302=
ENST00000571958.1:c.163-58A=
ENST00000572621.5:c.6906A=	ENSP00000460348.1:p.Lys2302=
ENST00000572723.1:n.895A=
NM_006445.3:c.6906A=	NP_006436.3:p.Lys2302=
XM_024450537.1:c.6906A=	XP_024306305.1:p.Lys2302=
NM_006445.4:c.6906A= MANE Select	NP_006436.3:p.Lys2302=