Canonical Allele Identifier: CA397563632

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1213886
• ClinVar RCV Id: RCV001591828
• dbSNP Id: rs2151109229
• MyVariant Identifiers: chr17:g.1554418C>A (hg19) ; chr17:g.1651124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651124C>A , CM000679.2:g.1651124C>A	GRCh38
NC_000017.10:g.1554418C>A , CM000679.1:g.1554418C>A	GRCh37
NC_000017.9:g.1501168C>A	NCBI36
NG_009118.1:g.38759G>T
NG_033061.1:g.3975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6657G>T	ENSP00000460849.2:p.Trp2219Cys
ENST00000703537.1:c.2585G>T
ENST00000703538.1:c.*6560G>T	ENSP00000515361.1:n.*6560G>T
ENST00000703539.1:n.3151G>T
ENST00000703540.1:c.6690G>T	ENSP00000515362.1:p.Trp2230Cys
ENST00000703541.1:c.6702G>T	ENSP00000515363.1:p.Trp2234Cys
ENST00000304992.11:c.6837G>T MANE Select	ENSP00000304350.6:p.Trp2279Cys
ENST00000304992.10:c.6837G>T	ENSP00000304350.6:p.Trp2279Cys
ENST00000571958.1:c.146G>T
ENST00000572621.5:c.6837G>T	ENSP00000460348.1:p.Trp2279Cys
ENST00000572723.1:n.826G>T
NM_006445.3:c.6837G>T	NP_006436.3:p.Trp2279Cys
XM_024450537.1:c.6837G>T	XP_024306305.1:p.Trp2279Cys
NM_006445.4:c.6837G>T MANE Select	NP_006436.3:p.Trp2279Cys