Canonical Allele Identifier: CA252742

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 3357
• ClinVar RCV Id: RCV000003521 ; RCV001074988 ; RCV001851617
• dbSNP Id: rs121434238
• MyVariant Identifiers: chr17:g.1554175C>T (hg19) ; chr17:g.1650881C>T (hg38)
• PubMed: PMID:11468273

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650881C>T , CM000679.2:g.1650881C>T	GRCh38
NC_000017.10:g.1554175C>T , CM000679.1:g.1554175C>T	GRCh37
NC_000017.9:g.1500925C>T	NCBI36
NG_009118.1:g.39002G>A
NG_033061.1:g.4218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6749G>A	ENSP00000460849.2:p.Arg2250Lys
ENST00000703537.1:c.2677G>A
ENST00000703538.1:c.*6652G>A	ENSP00000515361.1:n.*6652G>A
ENST00000703539.1:n.3243G>A
ENST00000703540.1:c.6782G>A	ENSP00000515362.1:p.Arg2261Lys
ENST00000703541.1:c.6794G>A	ENSP00000515363.1:p.Arg2265Lys
ENST00000304992.11:c.6929G>A MANE Select	ENSP00000304350.6:p.Arg2310Lys
ENST00000304992.10:c.6929G>A	ENSP00000304350.6:p.Arg2310Lys
ENST00000571958.1:c.163-35G>A
ENST00000572621.5:c.6929G>A	ENSP00000460348.1:p.Arg2310Lys
ENST00000572723.1:n.918G>A
NM_006445.3:c.6929G>A	NP_006436.3:p.Arg2310Lys
XM_024450537.1:c.6929G>A	XP_024306305.1:p.Arg2310Lys
NM_006445.4:c.6929G>A MANE Select	NP_006436.3:p.Arg2310Lys