Canonical Allele Identifier: CA2242977840

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651290G= , CM000679.2:g.1651290G=	GRCh38
NC_000017.10:g.1554584G= , CM000679.1:g.1554584G=	GRCh37
NC_000017.9:g.1501334G=	NCBI36
NG_009118.1:g.38593C=
NG_033061.1:g.3809C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6491C=	ENSP00000460849.2:p.Thr2164=
ENST00000703537.1:c.2419C=
ENST00000703538.1:c.*6394C=	ENSP00000515361.1:n.*6394C=
ENST00000703539.1:n.2985C=
ENST00000703540.1:c.6524C=	ENSP00000515362.1:p.Thr2175=
ENST00000703541.1:c.6536C=	ENSP00000515363.1:p.Thr2179=
ENST00000304992.11:c.6671C= MANE Select	ENSP00000304350.6:p.Thr2224=
ENST00000304992.10:c.6671C=	ENSP00000304350.6:p.Thr2224=
ENST00000572621.5:c.6671C=	ENSP00000460348.1:p.Thr2224=
ENST00000572723.1:n.660C=
NM_006445.3:c.6671C=	NP_006436.3:p.Thr2224=
XM_024450537.1:c.6671C=	XP_024306305.1:p.Thr2224=
NM_006445.4:c.6671C= MANE Select	NP_006436.3:p.Thr2224=