Canonical Allele Identifier: CA2242977433

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650950C= , CM000679.2:g.1650950C=	GRCh38
NC_000017.10:g.1554244C= , CM000679.1:g.1554244C=	GRCh37
NC_000017.9:g.1500994C=	NCBI36
NG_009118.1:g.38933G=
NG_033061.1:g.4149G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6680G=	ENSP00000460849.2:p.Arg2227=
ENST00000703537.1:c.2608G=
ENST00000703538.1:c.*6583G=	ENSP00000515361.1:n.*6583G=
ENST00000703539.1:n.3174G=
ENST00000703540.1:c.6713G=	ENSP00000515362.1:p.Arg2238=
ENST00000703541.1:c.6725G=	ENSP00000515363.1:p.Arg2242=
ENST00000304992.11:c.6860G= MANE Select	ENSP00000304350.6:p.Arg2287=
ENST00000304992.10:c.6860G=	ENSP00000304350.6:p.Arg2287=
ENST00000571958.1:c.163-104G=
ENST00000572621.5:c.6860G=	ENSP00000460348.1:p.Arg2287=
ENST00000572723.1:n.849G=
NM_006445.3:c.6860G=	NP_006436.3:p.Arg2287=
XM_024450537.1:c.6860G=	XP_024306305.1:p.Arg2287=
NM_006445.4:c.6860G= MANE Select	NP_006436.3:p.Arg2287=