Canonical Allele Identifier: CA397564089

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2803610
• ClinVar RCV Id: RCV003681599
• dbSNP Id: rs1911039862
• gnomAD v4: 17-1651255-C-T
• MyVariant Identifiers: chr17:g.1554549C>T (hg19) ; chr17:g.1651255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651255C>T , CM000679.2:g.1651255C>T	GRCh38
NC_000017.10:g.1554549C>T , CM000679.1:g.1554549C>T	GRCh37
NC_000017.9:g.1501299C>T	NCBI36
NG_009118.1:g.38628G>A
NG_033061.1:g.3844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6526G>A	ENSP00000460849.2:p.Glu2176Lys
ENST00000703537.1:c.2454G>A
ENST00000703538.1:c.*6429G>A	ENSP00000515361.1:n.*6429G>A
ENST00000703539.1:n.3020G>A
ENST00000703540.1:c.6559G>A	ENSP00000515362.1:p.Glu2187Lys
ENST00000703541.1:c.6571G>A	ENSP00000515363.1:p.Glu2191Lys
ENST00000304992.11:c.6706G>A MANE Select	ENSP00000304350.6:p.Glu2236Lys
ENST00000304992.10:c.6706G>A	ENSP00000304350.6:p.Glu2236Lys
ENST00000571958.1:c.15G>A
ENST00000572621.5:c.6706G>A	ENSP00000460348.1:p.Glu2236Lys
ENST00000572723.1:n.695G>A
NM_006445.3:c.6706G>A	NP_006436.3:p.Glu2236Lys
XM_024450537.1:c.6706G>A	XP_024306305.1:p.Glu2236Lys
NM_006445.4:c.6706G>A MANE Select	NP_006436.3:p.Glu2236Lys