Canonical Allele Identifier: CA2242977393

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650910G= , CM000679.2:g.1650910G=	GRCh38
NC_000017.10:g.1554204G= , CM000679.1:g.1554204G=	GRCh37
NC_000017.9:g.1500954G=	NCBI36
NG_009118.1:g.38973C=
NG_033061.1:g.4189C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6720C=	ENSP00000460849.2:p.Asn2240=
ENST00000703537.1:c.2648C=
ENST00000703538.1:c.*6623C=	ENSP00000515361.1:n.*6623C=
ENST00000703539.1:n.3214C=
ENST00000703540.1:c.6753C=	ENSP00000515362.1:p.Asn2251=
ENST00000703541.1:c.6765C=	ENSP00000515363.1:p.Asn2255=
ENST00000304992.11:c.6900C= MANE Select	ENSP00000304350.6:p.Asn2300=
ENST00000304992.10:c.6900C=	ENSP00000304350.6:p.Asn2300=
ENST00000571958.1:c.163-64C=
ENST00000572621.5:c.6900C=	ENSP00000460348.1:p.Asn2300=
ENST00000572723.1:n.889C=
NM_006445.3:c.6900C=	NP_006436.3:p.Asn2300=
XM_024450537.1:c.6900C=	XP_024306305.1:p.Asn2300=
NM_006445.4:c.6900C= MANE Select	NP_006436.3:p.Asn2300=