Canonical Allele Identifier: CA2242977718

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651174G= , CM000679.2:g.1651174G=	GRCh38
NC_000017.10:g.1554468G= , CM000679.1:g.1554468G=	GRCh37
NC_000017.9:g.1501218G=	NCBI36
NG_009118.1:g.38709C=
NG_033061.1:g.3925C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6607C=	ENSP00000460849.2:p.Leu2203=
ENST00000703537.1:c.2535C=
ENST00000703538.1:c.*6510C=	ENSP00000515361.1:n.*6510C=
ENST00000703539.1:n.3101C=
ENST00000703540.1:c.6640C=	ENSP00000515362.1:p.Leu2214=
ENST00000703541.1:c.6652C=	ENSP00000515363.1:p.Leu2218=
ENST00000304992.11:c.6787C= MANE Select	ENSP00000304350.6:p.Leu2263=
ENST00000304992.10:c.6787C=	ENSP00000304350.6:p.Leu2263=
ENST00000571958.1:c.96C=
ENST00000572621.5:c.6787C=	ENSP00000460348.1:p.Leu2263=
ENST00000572723.1:n.776C=
NM_006445.3:c.6787C=	NP_006436.3:p.Leu2263=
XM_024450537.1:c.6787C=	XP_024306305.1:p.Leu2263=
NM_006445.4:c.6787C= MANE Select	NP_006436.3:p.Leu2263=