Canonical Allele Identifier: CA2242977370

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650900A= , CM000679.2:g.1650900A=	GRCh38
NC_000017.10:g.1554194A= , CM000679.1:g.1554194A=	GRCh37
NC_000017.9:g.1500944A=	NCBI36
NG_009118.1:g.38983T=
NG_033061.1:g.4199T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6730T=	ENSP00000460849.2:p.Phe2244=
ENST00000703537.1:c.2658T=
ENST00000703538.1:c.*6633T=	ENSP00000515361.1:n.*6633T=
ENST00000703539.1:n.3224T=
ENST00000703540.1:c.6763T=	ENSP00000515362.1:p.Phe2255=
ENST00000703541.1:c.6775T=	ENSP00000515363.1:p.Phe2259=
ENST00000304992.11:c.6910T= MANE Select	ENSP00000304350.6:p.Phe2304=
ENST00000304992.10:c.6910T=	ENSP00000304350.6:p.Phe2304=
ENST00000571958.1:c.163-54T=
ENST00000572621.5:c.6910T=	ENSP00000460348.1:p.Phe2304=
ENST00000572723.1:n.899T=
NM_006445.3:c.6910T=	NP_006436.3:p.Phe2304=
XM_024450537.1:c.6910T=	XP_024306305.1:p.Phe2304=
NM_006445.4:c.6910T= MANE Select	NP_006436.3:p.Phe2304=