Canonical Allele Identifier: CA2242977493

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650979A= , CM000679.2:g.1650979A=	GRCh38
NC_000017.10:g.1554273A= , CM000679.1:g.1554273A=	GRCh37
NC_000017.9:g.1501023A=	NCBI36
NG_009118.1:g.38904T=
NG_033061.1:g.4120T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-23T=	ENSP00000460849.2:n.6674-23T=
ENST00000703537.1:c.2602-23T=
ENST00000703538.1:c.*6577-23T=	ENSP00000515361.1:n.*6577-23T=
ENST00000703539.1:n.3168-23T=
ENST00000703540.1:c.6707-23T=	ENSP00000515362.1:n.6707-23T=
ENST00000703541.1:c.6719-23T=	ENSP00000515363.1:n.6719-23T=
ENST00000304992.11:c.6854-23T= MANE Select	ENSP00000304350.6:n.6854-23T=
ENST00000304992.10:c.6854-23T=	ENSP00000304350.6:n.6854-23T=
ENST00000571958.1:c.162+129T=
ENST00000572621.5:c.6854-23T=	ENSP00000460348.1:n.6854-23T=
ENST00000572723.1:n.843-23T=
NM_006445.3:c.6854-23T=	NP_006436.3:n.6854-23T=
XM_024450537.1:c.6854-23T=	XP_024306305.1:n.6854-23T=
NM_006445.4:c.6854-23T= MANE Select	NP_006436.3:n.6854-23T=