Canonical Allele Identifier: CA2242977137

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650791C= , CM000679.2:g.1650791C=	GRCh38
NC_000017.10:g.1554085C= , CM000679.1:g.1554085C=	GRCh37
NC_000017.9:g.1500835C=	NCBI36
NG_009118.1:g.39092G=
NG_033061.1:g.4308G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*11G=	ENSP00000460849.2:n.*11G=
ENST00000703537.1:c.2767G=
ENST00000703538.1:c.*6742G=	ENSP00000515361.1:n.*6742G=
ENST00000703539.1:n.3333G=
ENST00000703540.1:c.*11G=	ENSP00000515362.1:n.*11G=
ENST00000304992.11:c.*11G= MANE Select	ENSP00000304350.6:n.*11G=
ENST00000304992.10:c.*11G=	ENSP00000304350.6:n.*11G=
ENST00000571958.1:c.218G=
ENST00000572621.5:c.*11G=	ENSP00000460348.1:n.*11G=
NM_006445.3:c.*11G=	NP_006436.3:n.*11G=
XM_024450537.1:c.*11G=	XP_024306305.1:n.*11G=
NM_006445.4:c.*11G= MANE Select	NP_006436.3:n.*11G=