Canonical Allele Identifier: CA2242977876

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651316G= , CM000679.2:g.1651316G=	GRCh38
NC_000017.10:g.1554610G= , CM000679.1:g.1554610G=	GRCh37
NC_000017.9:g.1501360G=	NCBI36
NG_009118.1:g.38567C=
NG_033061.1:g.3783C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6471-6C=	ENSP00000460849.2:n.6471-6C=
ENST00000703537.1:c.2399-6C=
ENST00000703538.1:c.*6374-6C=	ENSP00000515361.1:n.*6374-6C=
ENST00000703539.1:n.2965-6C=
ENST00000703540.1:c.6504-6C=	ENSP00000515362.1:n.6504-6C=
ENST00000703541.1:c.6516-6C=	ENSP00000515363.1:n.6516-6C=
ENST00000304992.11:c.6651-6C= MANE Select	ENSP00000304350.6:n.6651-6C=
ENST00000304992.10:c.6651-6C=	ENSP00000304350.6:n.6651-6C=
ENST00000572621.5:c.6651-6C=	ENSP00000460348.1:n.6651-6C=
ENST00000572723.1:n.640-6C=
NM_006445.3:c.6651-6C=	NP_006436.3:n.6651-6C=
XM_024450537.1:c.6651-6C=	XP_024306305.1:n.6651-6C=
NM_006445.4:c.6651-6C= MANE Select	NP_006436.3:n.6651-6C=