Canonical Allele Identifier: CA2242977333

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650882T= , CM000679.2:g.1650882T=	GRCh38
NC_000017.10:g.1554176T= , CM000679.1:g.1554176T=	GRCh37
NC_000017.9:g.1500926T=	NCBI36
NG_009118.1:g.39001A=
NG_033061.1:g.4217A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6748A=	ENSP00000460849.2:p.Arg2250=
ENST00000703537.1:c.2676A=
ENST00000703538.1:c.*6651A=	ENSP00000515361.1:n.*6651A=
ENST00000703539.1:n.3242A=
ENST00000703540.1:c.6781A=	ENSP00000515362.1:p.Arg2261=
ENST00000703541.1:c.6793A=	ENSP00000515363.1:p.Arg2265=
ENST00000304992.11:c.6928A= MANE Select	ENSP00000304350.6:p.Arg2310=
ENST00000304992.10:c.6928A=	ENSP00000304350.6:p.Arg2310=
ENST00000571958.1:c.163-36A=
ENST00000572621.5:c.6928A=	ENSP00000460348.1:p.Arg2310=
ENST00000572723.1:n.917A=
NM_006445.3:c.6928A=	NP_006436.3:p.Arg2310=
XM_024450537.1:c.6928A=	XP_024306305.1:p.Arg2310=
NM_006445.4:c.6928A= MANE Select	NP_006436.3:p.Arg2310=