Canonical Allele Identifier: CA2242977396

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650913C= , CM000679.2:g.1650913C=	GRCh38
NC_000017.10:g.1554207C= , CM000679.1:g.1554207C=	GRCh37
NC_000017.9:g.1500957C=	NCBI36
NG_009118.1:g.38970G=
NG_033061.1:g.4186G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6717G=	ENSP00000460849.2:p.Ala2239=
ENST00000703537.1:c.2645G=
ENST00000703538.1:c.*6620G=	ENSP00000515361.1:n.*6620G=
ENST00000703539.1:n.3211G=
ENST00000703540.1:c.6750G=	ENSP00000515362.1:p.Ala2250=
ENST00000703541.1:c.6762G=	ENSP00000515363.1:p.Ala2254=
ENST00000304992.11:c.6897G= MANE Select	ENSP00000304350.6:p.Ala2299=
ENST00000304992.10:c.6897G=	ENSP00000304350.6:p.Ala2299=
ENST00000571958.1:c.163-67G=
ENST00000572621.5:c.6897G=	ENSP00000460348.1:p.Ala2299=
ENST00000572723.1:n.886G=
NM_006445.3:c.6897G=	NP_006436.3:p.Ala2299=
XM_024450537.1:c.6897G=	XP_024306305.1:p.Ala2299=
NM_006445.4:c.6897G= MANE Select	NP_006436.3:p.Ala2299=