Canonical Allele Identifier: CA2242977043

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650730G= , CM000679.2:g.1650730G=	GRCh38
NC_000017.10:g.1554024G= , CM000679.1:g.1554024G=	GRCh37
NC_000017.9:g.1500774G=	NCBI36
NG_009118.1:g.39153C=
NG_033061.1:g.4369C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*72C=	ENSP00000460849.2:n.*72C=
ENST00000703537.1:c.2828C=
ENST00000703538.1:c.*6803C=	ENSP00000515361.1:n.*6803C=
ENST00000703539.1:n.3394C=
ENST00000703540.1:c.*72C=	ENSP00000515362.1:n.*72C=
ENST00000304992.11:c.*72C= MANE Select	ENSP00000304350.6:n.*72C=
ENST00000304992.10:c.*72C=	ENSP00000304350.6:n.*72C=
ENST00000571958.1:c.279C=
ENST00000572621.5:c.*72C=	ENSP00000460348.1:n.*72C=
NM_006445.3:c.*72C=	NP_006436.3:n.*72C=
XM_024450537.1:c.*72C=	XP_024306305.1:n.*72C=
NM_006445.4:c.*72C= MANE Select	NP_006436.3:n.*72C=