Canonical Allele Identifier: CA497388863

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554427C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651133C>T , CM000679.2:g.1651133C>T	GRCh38
NC_000017.10:g.1554427C>T , CM000679.1:g.1554427C>T	GRCh37
NC_000017.9:g.1501177C>T	NCBI36
NG_009118.1:g.38750G>A
NG_033061.1:g.3966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6648G>A	ENSP00000460849.2:p.Gln2216=
ENST00000703537.1:c.2576G>A
ENST00000703538.1:c.*6551G>A	ENSP00000515361.1:n.*6551G>A
ENST00000703539.1:n.3142G>A
ENST00000703540.1:c.6681G>A	ENSP00000515362.1:p.Gln2227=
ENST00000703541.1:c.6693G>A	ENSP00000515363.1:p.Gln2231=
ENST00000304992.11:c.6828G>A MANE Select	ENSP00000304350.6:p.Gln2276=
ENST00000304992.10:c.6828G>A	ENSP00000304350.6:p.Gln2276=
ENST00000571958.1:c.137G>A
ENST00000572621.5:c.6828G>A	ENSP00000460348.1:p.Gln2276=
ENST00000572723.1:n.817G>A
NM_006445.3:c.6828G>A	NP_006436.3:p.Gln2276=
XM_024450537.1:c.6828G>A	XP_024306305.1:p.Gln2276=
NM_006445.4:c.6828G>A MANE Select	NP_006436.3:p.Gln2276=