Canonical Allele Identifier: CA2242976958

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650672C= , CM000679.2:g.1650672C=	GRCh38
NC_000017.10:g.1553966C= , CM000679.1:g.1553966C=	GRCh37
NC_000017.9:g.1500716C=	NCBI36
NG_009118.1:g.39211G=
NG_033061.1:g.4427G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*130G=	ENSP00000460849.2:n.*130G=
ENST00000703537.1:c.2886G=
ENST00000703538.1:c.*6861G=	ENSP00000515361.1:n.*6861G=
ENST00000703539.1:n.3452G=
ENST00000703540.1:c.*130G=	ENSP00000515362.1:n.*130G=
ENST00000304992.11:c.*130G= MANE Select	ENSP00000304350.6:n.*130G=
ENST00000304992.10:c.*130G=	ENSP00000304350.6:n.*130G=
ENST00000571958.1:c.337G=
ENST00000572621.5:c.*130G=	ENSP00000460348.1:n.*130G=
NM_006445.3:c.*130G=	NP_006436.3:n.*130G=
XM_024450537.1:c.*130G=	XP_024306305.1:n.*130G=
NM_006445.4:c.*130G= MANE Select	NP_006436.3:n.*130G=