Canonical Allele Identifier: CA2242977425

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650948G= , CM000679.2:g.1650948G=	GRCh38
NC_000017.10:g.1554242G= , CM000679.1:g.1554242G=	GRCh37
NC_000017.9:g.1500992G=	NCBI36
NG_009118.1:g.38935C=
NG_033061.1:g.4151C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6682C=	ENSP00000460849.2:p.His2228=
ENST00000703537.1:c.2610C=
ENST00000703538.1:c.*6585C=	ENSP00000515361.1:n.*6585C=
ENST00000703539.1:n.3176C=
ENST00000703540.1:c.6715C=	ENSP00000515362.1:p.His2239=
ENST00000703541.1:c.6727C=	ENSP00000515363.1:p.His2243=
ENST00000304992.11:c.6862C= MANE Select	ENSP00000304350.6:p.His2288=
ENST00000304992.10:c.6862C=	ENSP00000304350.6:p.His2288=
ENST00000571958.1:c.163-102C=
ENST00000572621.5:c.6862C=	ENSP00000460348.1:p.His2288=
ENST00000572723.1:n.851C=
NM_006445.3:c.6862C=	NP_006436.3:p.His2288=
XM_024450537.1:c.6862C=	XP_024306305.1:p.His2288=
NM_006445.4:c.6862C= MANE Select	NP_006436.3:p.His2288=