Canonical Allele Identifier: CA2242977749

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651194T= , CM000679.2:g.1651194T=	GRCh38
NC_000017.10:g.1554488T= , CM000679.1:g.1554488T=	GRCh37
NC_000017.9:g.1501238T=	NCBI36
NG_009118.1:g.38689A=
NG_033061.1:g.3905A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6587A=	ENSP00000460849.2:p.Tyr2196=
ENST00000703537.1:c.2515A=
ENST00000703538.1:c.*6490A=	ENSP00000515361.1:n.*6490A=
ENST00000703539.1:n.3081A=
ENST00000703540.1:c.6620A=	ENSP00000515362.1:p.Tyr2207=
ENST00000703541.1:c.6632A=	ENSP00000515363.1:p.Tyr2211=
ENST00000304992.11:c.6767A= MANE Select	ENSP00000304350.6:p.Tyr2256=
ENST00000304992.10:c.6767A=	ENSP00000304350.6:p.Tyr2256=
ENST00000571958.1:c.76A=
ENST00000572621.5:c.6767A=	ENSP00000460348.1:p.Tyr2256=
ENST00000572723.1:n.756A=
NM_006445.3:c.6767A=	NP_006436.3:p.Tyr2256=
XM_024450537.1:c.6767A=	XP_024306305.1:p.Tyr2256=
NM_006445.4:c.6767A= MANE Select	NP_006436.3:p.Tyr2256=