Canonical Allele Identifier: CA2242977234

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650830G= , CM000679.2:g.1650830G=	GRCh38
NC_000017.10:g.1554124G= , CM000679.1:g.1554124G=	GRCh37
NC_000017.9:g.1500874G=	NCBI36
NG_009118.1:g.39053C=
NG_033061.1:g.4269C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6800C=	ENSP00000460849.2:p.Ser2267=
ENST00000703537.1:c.2728C=
ENST00000703538.1:c.*6703C=	ENSP00000515361.1:n.*6703C=
ENST00000703539.1:n.3294C=
ENST00000703540.1:c.6833C=	ENSP00000515362.1:p.Ser2278=
ENST00000703541.1:c.6845C=	ENSP00000515363.1:p.Ser2282=
ENST00000304992.11:c.6980C= MANE Select	ENSP00000304350.6:p.Ser2327=
ENST00000304992.10:c.6980C=	ENSP00000304350.6:p.Ser2327=
ENST00000571958.1:c.179C=
ENST00000572621.5:c.6980C=	ENSP00000460348.1:p.Ser2327=
NM_006445.3:c.6980C=	NP_006436.3:p.Ser2327=
XM_024450537.1:c.6980C=	XP_024306305.1:p.Ser2327=
NM_006445.4:c.6980C= MANE Select	NP_006436.3:p.Ser2327=