Canonical Allele Identifier: CA8271257

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1653884C>T , CM000679.2:g.1653884C>T	GRCh38
NC_000017.10:g.1557178C>T , CM000679.1:g.1557178C>T	GRCh37
NC_000017.9:g.1503928C>T	NCBI36
NG_009118.1:g.35999G>A
NG_033061.1:g.1215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.6120G>A MANE Select	NP_006436.3:p.Thr2040=
ENST00000304992.11:c.6120G>A MANE Select	ENSP00000304350.6:p.Thr2040=
NM_006445.3:c.6120G>A	NP_006436.3:p.Thr2040=
ENST00000304992.10:c.6120G>A	ENSP00000304350.6:p.Thr2040=
ENST00000572621.5:c.6120G>A	ENSP00000460348.1:p.Thr2040=
ENST00000573725.2:c.5940G>A	ENSP00000460849.2:p.Thr1980=
ENST00000575116.1:n.28G>A
ENST00000576585.1:n.1097G>A
ENST00000703537.1:c.1868G>A
ENST00000703538.1:c.*5843G>A	ENSP00000515361.1:n.*5843G>A
ENST00000703539.1:n.2434G>A
ENST00000703540.1:c.5973G>A	ENSP00000515362.1:p.Thr1991=
ENST00000703541.1:c.5985G>A	ENSP00000515363.1:p.Thr1995=
XM_024450537.1:c.6120G>A	XP_024306305.1:p.Thr2040=