Canonical Allele Identifier: CA2242977859

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651301T= , CM000679.2:g.1651301T=	GRCh38
NC_000017.10:g.1554595T= , CM000679.1:g.1554595T=	GRCh37
NC_000017.9:g.1501345T=	NCBI36
NG_009118.1:g.38582A=
NG_033061.1:g.3798A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6480A=	ENSP00000460849.2:p.Pro2160=
ENST00000703537.1:c.2408A=
ENST00000703538.1:c.*6383A=	ENSP00000515361.1:n.*6383A=
ENST00000703539.1:n.2974A=
ENST00000703540.1:c.6513A=	ENSP00000515362.1:p.Pro2171=
ENST00000703541.1:c.6525A=	ENSP00000515363.1:p.Pro2175=
ENST00000304992.11:c.6660A= MANE Select	ENSP00000304350.6:p.Pro2220=
ENST00000304992.10:c.6660A=	ENSP00000304350.6:p.Pro2220=
ENST00000572621.5:c.6660A=	ENSP00000460348.1:p.Pro2220=
ENST00000572723.1:n.649A=
NM_006445.3:c.6660A=	NP_006436.3:p.Pro2220=
XM_024450537.1:c.6660A=	XP_024306305.1:p.Pro2220=
NM_006445.4:c.6660A= MANE Select	NP_006436.3:p.Pro2220=