Canonical Allele Identifier: CA2242977760

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651199T= , CM000679.2:g.1651199T=	GRCh38
NC_000017.10:g.1554493T= , CM000679.1:g.1554493T=	GRCh37
NC_000017.9:g.1501243T=	NCBI36
NG_009118.1:g.38684A=
NG_033061.1:g.3900A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6582A=	ENSP00000460849.2:p.Ser2194=
ENST00000703537.1:c.2510A=
ENST00000703538.1:c.*6485A=	ENSP00000515361.1:n.*6485A=
ENST00000703539.1:n.3076A=
ENST00000703540.1:c.6615A=	ENSP00000515362.1:p.Ser2205=
ENST00000703541.1:c.6627A=	ENSP00000515363.1:p.Ser2209=
ENST00000304992.11:c.6762A= MANE Select	ENSP00000304350.6:p.Ser2254=
ENST00000304992.10:c.6762A=	ENSP00000304350.6:p.Ser2254=
ENST00000571958.1:c.71A=
ENST00000572621.5:c.6762A=	ENSP00000460348.1:p.Ser2254=
ENST00000572723.1:n.751A=
NM_006445.3:c.6762A=	NP_006436.3:p.Ser2254=
XM_024450537.1:c.6762A=	XP_024306305.1:p.Ser2254=
NM_006445.4:c.6762A= MANE Select	NP_006436.3:p.Ser2254=