Canonical Allele Identifier: CA2242977819

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651265G= , CM000679.2:g.1651265G=	GRCh38
NC_000017.10:g.1554559G= , CM000679.1:g.1554559G=	GRCh37
NC_000017.9:g.1501309G=	NCBI36
NG_009118.1:g.38618C=
NG_033061.1:g.3834C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6516C=	ENSP00000460849.2:p.Pro2172=
ENST00000703537.1:c.2444C=
ENST00000703538.1:c.*6419C=	ENSP00000515361.1:n.*6419C=
ENST00000703539.1:n.3010C=
ENST00000703540.1:c.6549C=	ENSP00000515362.1:p.Pro2183=
ENST00000703541.1:c.6561C=	ENSP00000515363.1:p.Pro2187=
ENST00000304992.11:c.6696C= MANE Select	ENSP00000304350.6:p.Pro2232=
ENST00000304992.10:c.6696C=	ENSP00000304350.6:p.Pro2232=
ENST00000571958.1:c.5C=
ENST00000572621.5:c.6696C=	ENSP00000460348.1:p.Pro2232=
ENST00000572723.1:n.685C=
NM_006445.3:c.6696C=	NP_006436.3:p.Pro2232=
XM_024450537.1:c.6696C=	XP_024306305.1:p.Pro2232=
NM_006445.4:c.6696C= MANE Select	NP_006436.3:p.Pro2232=