Canonical Allele Identifier: CA397561652

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554098A>T (hg19) ; chr17:g.1650804A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650804A>T , CM000679.2:g.1650804A>T	GRCh38
NC_000017.10:g.1554098A>T , CM000679.1:g.1554098A>T	GRCh37
NC_000017.9:g.1500848A>T	NCBI36
NG_009118.1:g.39079T>A
NG_033061.1:g.4295T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6826T>A	ENSP00000460849.2:p.Ter2276Arg
ENST00000703537.1:c.2754T>A
ENST00000703538.1:c.*6729T>A	ENSP00000515361.1:n.*6729T>A
ENST00000703539.1:n.3320T>A
ENST00000703540.1:c.6859T>A	ENSP00000515362.1:p.Ter2287Arg
ENST00000703541.1:c.6871T>A	ENSP00000515363.1:p.Ter2291Arg
ENST00000304992.11:c.7006T>A MANE Select	ENSP00000304350.6:p.Ter2336Arg
ENST00000304992.10:c.7006T>A	ENSP00000304350.6:p.Ter2336Arg
ENST00000571958.1:c.205T>A
ENST00000572621.5:c.7006T>A	ENSP00000460348.1:p.Ter2336Arg
NM_006445.3:c.7006T>A	NP_006436.3:p.Ter2336Arg
XM_024450537.1:c.7006T>A	XP_024306305.1:p.Ter2336Arg
NM_006445.4:c.7006T>A MANE Select	NP_006436.3:p.Ter2336Arg