Canonical Allele Identifier: CA397576735

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1661134G>A , CM000679.2:g.1661134G>A	GRCh38
NC_000017.10:g.1564428G>A , CM000679.1:g.1564428G>A	GRCh37
NC_000017.9:g.1511178G>A	NCBI36
NG_009118.1:g.28749C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.4367C>T MANE Select	NP_006436.3:p.Thr1456Ile
ENST00000304992.11:c.4367C>T MANE Select	ENSP00000304350.6:p.Thr1456Ile
NM_006445.3:c.4367C>T	NP_006436.3:p.Thr1456Ile
ENST00000304992.10:c.4367C>T	ENSP00000304350.6:p.Thr1456Ile
ENST00000572445.1:n.441C>T
ENST00000572621.5:c.4367C>T	ENSP00000460348.1:p.Thr1456Ile
ENST00000573681.1:n.88C>T
ENST00000573725.1:c.298C>T
ENST00000573725.2:c.4187C>T	ENSP00000460849.2:p.Thr1396Ile
ENST00000703537.1:c.178C>T
ENST00000703538.1:c.*4090C>T	ENSP00000515361.1:n.*4090C>T
ENST00000703539.1:n.681C>T
ENST00000703540.1:c.4220C>T	ENSP00000515362.1:p.Thr1407Ile
ENST00000703541.1:c.4232C>T	ENSP00000515363.1:p.Thr1411Ile
XM_024450537.1:c.4367C>T	XP_024306305.1:p.Thr1456Ile