Canonical Allele Identifier: CA2242977251

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650839T= , CM000679.2:g.1650839T=	GRCh38
NC_000017.10:g.1554133T= , CM000679.1:g.1554133T=	GRCh37
NC_000017.9:g.1500883T=	NCBI36
NG_009118.1:g.39044A=
NG_033061.1:g.4260A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6791A=	ENSP00000460849.2:p.Glu2264=
ENST00000703537.1:c.2719A=
ENST00000703538.1:c.*6694A=	ENSP00000515361.1:n.*6694A=
ENST00000703539.1:n.3285A=
ENST00000703540.1:c.6824A=	ENSP00000515362.1:p.Glu2275=
ENST00000703541.1:c.6836A=	ENSP00000515363.1:p.Glu2279=
ENST00000304992.11:c.6971A= MANE Select	ENSP00000304350.6:p.Glu2324=
ENST00000304992.10:c.6971A=	ENSP00000304350.6:p.Glu2324=
ENST00000571958.1:c.170A=
ENST00000572621.5:c.6971A=	ENSP00000460348.1:p.Glu2324=
NM_006445.3:c.6971A=	NP_006436.3:p.Glu2324=
XM_024450537.1:c.6971A=	XP_024306305.1:p.Glu2324=
NM_006445.4:c.6971A= MANE Select	NP_006436.3:p.Glu2324=