Canonical Allele Identifier: CA8271117

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1641352
• ClinVar RCV Id: RCV002140100
• dbSNP Id: rs780328989
• ExAC: 17:1554618 G / A
• gnomAD v2: 17-1554618-G-A
• gnomAD v3: 17-1651324-G-A
• gnomAD v4: 17-1651324-G-A
• MyVariant Identifiers: chr17:g.1554618G>A (hg19) ; chr17:g.1651324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651324G>A , CM000679.2:g.1651324G>A	GRCh38
NC_000017.10:g.1554618G>A , CM000679.1:g.1554618G>A	GRCh37
NC_000017.9:g.1501368G>A	NCBI36
NG_009118.1:g.38559C>T
NG_033061.1:g.3775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6471-14C>T	ENSP00000460849.2:n.6471-14C>T
ENST00000703537.1:c.2399-14C>T
ENST00000703538.1:c.*6374-14C>T	ENSP00000515361.1:n.*6374-14C>T
ENST00000703539.1:n.2965-14C>T
ENST00000703540.1:c.6504-14C>T	ENSP00000515362.1:n.6504-14C>T
ENST00000703541.1:c.6516-14C>T	ENSP00000515363.1:n.6516-14C>T
ENST00000304992.11:c.6651-14C>T MANE Select	ENSP00000304350.6:n.6651-14C>T
ENST00000304992.10:c.6651-14C>T	ENSP00000304350.6:n.6651-14C>T
ENST00000572621.5:c.6651-14C>T	ENSP00000460348.1:n.6651-14C>T
ENST00000572723.1:n.640-14C>T
NM_006445.3:c.6651-14C>T	NP_006436.3:n.6651-14C>T
XM_024450537.1:c.6651-14C>T	XP_024306305.1:n.6651-14C>T
NM_006445.4:c.6651-14C>T MANE Select	NP_006436.3:n.6651-14C>T