Canonical Allele Identifier: CA2242977587

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651059C= , CM000679.2:g.1651059C=	GRCh38
NC_000017.10:g.1554353C= , CM000679.1:g.1554353C=	GRCh37
NC_000017.9:g.1501103C=	NCBI36
NG_009118.1:g.38824G=
NG_033061.1:g.4040G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+49G=	ENSP00000460849.2:n.6673+49G=
ENST00000703537.1:c.2601+49G=
ENST00000703538.1:c.*6576+49G=	ENSP00000515361.1:n.*6576+49G=
ENST00000703539.1:n.3167+49G=
ENST00000703540.1:c.6706+49G=	ENSP00000515362.1:n.6706+49G=
ENST00000703541.1:c.6718+49G=	ENSP00000515363.1:n.6718+49G=
ENST00000304992.11:c.6853+49G= MANE Select	ENSP00000304350.6:n.6853+49G=
ENST00000304992.10:c.6853+49G=	ENSP00000304350.6:n.6853+49G=
ENST00000571958.1:c.162+49G=
ENST00000572621.5:c.6853+49G=	ENSP00000460348.1:n.6853+49G=
ENST00000572723.1:n.842+49G=
NM_006445.3:c.6853+49G=	NP_006436.3:n.6853+49G=
XM_024450537.1:c.6853+49G=	XP_024306305.1:n.6853+49G=
NM_006445.4:c.6853+49G= MANE Select	NP_006436.3:n.6853+49G=