Canonical Allele Identifier: CA2242977829

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651278T= , CM000679.2:g.1651278T=	GRCh38
NC_000017.10:g.1554572T= , CM000679.1:g.1554572T=	GRCh37
NC_000017.9:g.1501322T=	NCBI36
NG_009118.1:g.38605A=
NG_033061.1:g.3821A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6503A=	ENSP00000460849.2:p.Tyr2168=
ENST00000703537.1:c.2431A=
ENST00000703538.1:c.*6406A=	ENSP00000515361.1:n.*6406A=
ENST00000703539.1:n.2997A=
ENST00000703540.1:c.6536A=	ENSP00000515362.1:p.Tyr2179=
ENST00000703541.1:c.6548A=	ENSP00000515363.1:p.Tyr2183=
ENST00000304992.11:c.6683A= MANE Select	ENSP00000304350.6:p.Tyr2228=
ENST00000304992.10:c.6683A=	ENSP00000304350.6:p.Tyr2228=
ENST00000572621.5:c.6683A=	ENSP00000460348.1:p.Tyr2228=
ENST00000572723.1:n.672A=
NM_006445.3:c.6683A=	NP_006436.3:p.Tyr2228=
XM_024450537.1:c.6683A=	XP_024306305.1:p.Tyr2228=
NM_006445.4:c.6683A= MANE Select	NP_006436.3:p.Tyr2228=