Canonical Allele Identifier: CA286849507

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2299147
• ClinVar RCV Id: RCV002868700
• dbSNP Id: rs979076571
• gnomAD v4: 17-1650851-A-C
• MyVariant Identifiers: chr17:g.1554145A>C (hg19) ; chr17:g.1650851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650851A>C , CM000679.2:g.1650851A>C	GRCh38
NC_000017.10:g.1554145A>C , CM000679.1:g.1554145A>C	GRCh37
NC_000017.9:g.1500895A>C	NCBI36
NG_009118.1:g.39032T>G
NG_033061.1:g.4248T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6779T>G	ENSP00000460849.2:p.Leu2260Arg
ENST00000703537.1:c.2707T>G
ENST00000703538.1:c.*6682T>G	ENSP00000515361.1:n.*6682T>G
ENST00000703539.1:n.3273T>G
ENST00000703540.1:c.6812T>G	ENSP00000515362.1:p.Leu2271Arg
ENST00000703541.1:c.6824T>G	ENSP00000515363.1:p.Leu2275Arg
ENST00000304992.11:c.6959T>G MANE Select	ENSP00000304350.6:p.Leu2320Arg
ENST00000304992.10:c.6959T>G	ENSP00000304350.6:p.Leu2320Arg
ENST00000571958.1:c.163-5T>G
ENST00000572621.5:c.6959T>G	ENSP00000460348.1:p.Leu2320Arg
ENST00000572723.1:n.948T>G
NM_006445.3:c.6959T>G	NP_006436.3:p.Leu2320Arg
XM_024450537.1:c.6959T>G	XP_024306305.1:p.Leu2320Arg
NM_006445.4:c.6959T>G MANE Select	NP_006436.3:p.Leu2320Arg