Canonical Allele Identifier: CA2242977711

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651169C= , CM000679.2:g.1651169C=	GRCh38
NC_000017.10:g.1554463C= , CM000679.1:g.1554463C=	GRCh37
NC_000017.9:g.1501213C=	NCBI36
NG_009118.1:g.38714G=
NG_033061.1:g.3930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6612G=	ENSP00000460849.2:p.Ser2204=
ENST00000703537.1:c.2540G=
ENST00000703538.1:c.*6515G=	ENSP00000515361.1:n.*6515G=
ENST00000703539.1:n.3106G=
ENST00000703540.1:c.6645G=	ENSP00000515362.1:p.Ser2215=
ENST00000703541.1:c.6657G=	ENSP00000515363.1:p.Ser2219=
ENST00000304992.11:c.6792G= MANE Select	ENSP00000304350.6:p.Ser2264=
ENST00000304992.10:c.6792G=	ENSP00000304350.6:p.Ser2264=
ENST00000571958.1:c.101G=
ENST00000572621.5:c.6792G=	ENSP00000460348.1:p.Ser2264=
ENST00000572723.1:n.781G=
NM_006445.3:c.6792G=	NP_006436.3:p.Ser2264=
XM_024450537.1:c.6792G=	XP_024306305.1:p.Ser2264=
NM_006445.4:c.6792G= MANE Select	NP_006436.3:p.Ser2264=