Canonical Allele Identifier: CA913191034

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 624085
• ClinVar RCV Id: RCV000762192 ; RCV001199519
• dbSNP Id: rs1467838102
• gnomAD v4: 17-1651313-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651313G>T , CM000679.2:g.1651313G>T	GRCh38
NC_000017.10:g.1554607G>T , CM000679.1:g.1554607G>T	GRCh37
NC_000017.9:g.1501357G>T	NCBI36
NG_009118.1:g.38570C>A
NG_033061.1:g.3786C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6471-3C>A	ENSP00000460849.2:n.6471-3C>A
ENST00000703537.1:c.2399-3C>A
ENST00000703538.1:c.*6374-3C>A	ENSP00000515361.1:n.*6374-3C>A
ENST00000703539.1:n.2965-3C>A
ENST00000703540.1:c.6504-3C>A	ENSP00000515362.1:n.6504-3C>A
ENST00000703541.1:c.6516-3C>A	ENSP00000515363.1:n.6516-3C>A
ENST00000304992.11:c.6651-3C>A MANE Select	ENSP00000304350.6:n.6651-3C>A
ENST00000304992.10:c.6651-3C>A	ENSP00000304350.6:n.6651-3C>A
ENST00000572621.5:c.6651-3C>A	ENSP00000460348.1:n.6651-3C>A
ENST00000572723.1:n.640-3C>A
NM_006445.3:c.6651-3C>A	NP_006436.3:n.6651-3C>A
XM_024450537.1:c.6651-3C>A	XP_024306305.1:n.6651-3C>A
NM_006445.4:c.6651-3C>A MANE Select	NP_006436.3:n.6651-3C>A