Canonical Allele Identifier: CA2242977784

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651221T= , CM000679.2:g.1651221T=	GRCh38
NC_000017.10:g.1554515T= , CM000679.1:g.1554515T=	GRCh37
NC_000017.9:g.1501265T=	NCBI36
NG_009118.1:g.38662A=
NG_033061.1:g.3878A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6560A=	ENSP00000460849.2:p.Asn2187=
ENST00000703537.1:c.2488A=
ENST00000703538.1:c.*6463A=	ENSP00000515361.1:n.*6463A=
ENST00000703539.1:n.3054A=
ENST00000703540.1:c.6593A=	ENSP00000515362.1:p.Asn2198=
ENST00000703541.1:c.6605A=	ENSP00000515363.1:p.Asn2202=
ENST00000304992.11:c.6740A= MANE Select	ENSP00000304350.6:p.Asn2247=
ENST00000304992.10:c.6740A=	ENSP00000304350.6:p.Asn2247=
ENST00000571958.1:c.49A=
ENST00000572621.5:c.6740A=	ENSP00000460348.1:p.Asn2247=
ENST00000572723.1:n.729A=
NM_006445.3:c.6740A=	NP_006436.3:p.Asn2247=
XM_024450537.1:c.6740A=	XP_024306305.1:p.Asn2247=
NM_006445.4:c.6740A= MANE Select	NP_006436.3:p.Asn2247=