Canonical Allele Identifier: CA397568976

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1655363C>T , CM000679.2:g.1655363C>T	GRCh38
NC_000017.10:g.1558657C>T , CM000679.1:g.1558657C>T	GRCh37
NC_000017.9:g.1505407C>T	NCBI36
NG_009118.1:g.34520G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.5974G>A MANE Select	NP_006436.3:p.Gly1992Ser
ENST00000304992.11:c.5974G>A MANE Select	ENSP00000304350.6:p.Gly1992Ser
NM_006445.3:c.5974G>A	NP_006436.3:p.Gly1992Ser
ENST00000304992.10:c.5974G>A	ENSP00000304350.6:p.Gly1992Ser
ENST00000572621.5:c.5974G>A	ENSP00000460348.1:p.Gly1992Ser
ENST00000573725.2:c.5794G>A	ENSP00000460849.2:p.Gly1932Ser
ENST00000703537.1:c.1722G>A
ENST00000703538.1:c.*5697G>A	ENSP00000515361.1:n.*5697G>A
ENST00000703539.1:n.2288G>A
ENST00000703540.1:c.5827G>A	ENSP00000515362.1:p.Gly1943Ser
ENST00000703541.1:c.5839G>A	ENSP00000515363.1:p.Gly1947Ser
XM_024450537.1:c.5974G>A	XP_024306305.1:p.Gly1992Ser