Canonical Allele Identifier: CA397561650

Gene: PRPF8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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