Canonical Allele Identifier: CA252744

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 3359
• ClinVar RCV Id: RCV000003523 ; RCV001268615
• dbSNP Id: rs121434240
• MyVariant Identifiers: chr17:g.1554192G>C (hg19) ; chr17:g.1650898G>C (hg38)
• PubMed: PMID:11468273

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650898G>C , CM000679.2:g.1650898G>C	GRCh38
NC_000017.10:g.1554192G>C , CM000679.1:g.1554192G>C	GRCh37
NC_000017.9:g.1500942G>C	NCBI36
NG_009118.1:g.38985C>G
NG_033061.1:g.4201C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6732C>G	ENSP00000460849.2:p.Phe2244Leu
ENST00000703537.1:c.2660C>G
ENST00000703538.1:c.*6635C>G	ENSP00000515361.1:n.*6635C>G
ENST00000703539.1:n.3226C>G
ENST00000703540.1:c.6765C>G	ENSP00000515362.1:p.Phe2255Leu
ENST00000703541.1:c.6777C>G	ENSP00000515363.1:p.Phe2259Leu
ENST00000304992.11:c.6912C>G MANE Select	ENSP00000304350.6:p.Phe2304Leu
ENST00000304992.10:c.6912C>G	ENSP00000304350.6:p.Phe2304Leu
ENST00000571958.1:c.163-52C>G
ENST00000572621.5:c.6912C>G	ENSP00000460348.1:p.Phe2304Leu
ENST00000572723.1:n.901C>G
NM_006445.3:c.6912C>G	NP_006436.3:p.Phe2304Leu
XM_024450537.1:c.6912C>G	XP_024306305.1:p.Phe2304Leu
NM_006445.4:c.6912C>G MANE Select	NP_006436.3:p.Phe2304Leu