Canonical Allele Identifier: CA397561829

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1388434
• ClinVar RCV Id: RCV001886679
• dbSNP Id: rs1910997588
• MyVariant Identifiers: chr17:g.1554137C>T (hg19) ; chr17:g.1650843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650843C>T , CM000679.2:g.1650843C>T	GRCh38
NC_000017.10:g.1554137C>T , CM000679.1:g.1554137C>T	GRCh37
NC_000017.9:g.1500887C>T	NCBI36
NG_009118.1:g.39040G>A
NG_033061.1:g.4256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6787G>A	ENSP00000460849.2:p.Gly2263Arg
ENST00000703537.1:c.2715G>A
ENST00000703538.1:c.*6690G>A	ENSP00000515361.1:n.*6690G>A
ENST00000703539.1:n.3281G>A
ENST00000703540.1:c.6820G>A	ENSP00000515362.1:p.Gly2274Arg
ENST00000703541.1:c.6832G>A	ENSP00000515363.1:p.Gly2278Arg
ENST00000304992.11:c.6967G>A MANE Select	ENSP00000304350.6:p.Gly2323Arg
ENST00000304992.10:c.6967G>A	ENSP00000304350.6:p.Gly2323Arg
ENST00000571958.1:c.166G>A
ENST00000572621.5:c.6967G>A	ENSP00000460348.1:p.Gly2323Arg
ENST00000572723.1:n.956G>A
NM_006445.3:c.6967G>A	NP_006436.3:p.Gly2323Arg
XM_024450537.1:c.6967G>A	XP_024306305.1:p.Gly2323Arg
NM_006445.4:c.6967G>A MANE Select	NP_006436.3:p.Gly2323Arg