Canonical Allele Identifier: CA2242977423

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650945C= , CM000679.2:g.1650945C=	GRCh38
NC_000017.10:g.1554239C= , CM000679.1:g.1554239C=	GRCh37
NC_000017.9:g.1500989C=	NCBI36
NG_009118.1:g.38938G=
NG_033061.1:g.4154G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6685G=	ENSP00000460849.2:p.Asp2229=
ENST00000703537.1:c.2613G=
ENST00000703538.1:c.*6588G=	ENSP00000515361.1:n.*6588G=
ENST00000703539.1:n.3179G=
ENST00000703540.1:c.6718G=	ENSP00000515362.1:p.Asp2240=
ENST00000703541.1:c.6730G=	ENSP00000515363.1:p.Asp2244=
ENST00000304992.11:c.6865G= MANE Select	ENSP00000304350.6:p.Asp2289=
ENST00000304992.10:c.6865G=	ENSP00000304350.6:p.Asp2289=
ENST00000571958.1:c.163-99G=
ENST00000572621.5:c.6865G=	ENSP00000460348.1:p.Asp2289=
ENST00000572723.1:n.854G=
NM_006445.3:c.6865G=	NP_006436.3:p.Asp2289=
XM_024450537.1:c.6865G=	XP_024306305.1:p.Asp2289=
NM_006445.4:c.6865G= MANE Select	NP_006436.3:p.Asp2289=