Canonical Allele Identifier: CA252743

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 3358
• ClinVar RCV Id: RCV000003522 ; RCV001242192
• dbSNP Id: rs121434239
• gnomAD v4: 17-1650909-G-T
• MyVariant Identifiers: chr17:g.1554203G>T (hg19) ; chr17:g.1650909G>T (hg38)
• PubMed: PMID:11468273

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650909G>T , CM000679.2:g.1650909G>T	GRCh38
NC_000017.10:g.1554203G>T , CM000679.1:g.1554203G>T	GRCh37
NC_000017.9:g.1500953G>T	NCBI36
NG_009118.1:g.38974C>A
NG_033061.1:g.4190C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6721C>A	ENSP00000460849.2:p.Pro2241Thr
ENST00000703537.1:c.2649C>A
ENST00000703538.1:c.*6624C>A	ENSP00000515361.1:n.*6624C>A
ENST00000703539.1:n.3215C>A
ENST00000703540.1:c.6754C>A	ENSP00000515362.1:p.Pro2252Thr
ENST00000703541.1:c.6766C>A	ENSP00000515363.1:p.Pro2256Thr
ENST00000304992.11:c.6901C>A MANE Select	ENSP00000304350.6:p.Pro2301Thr
ENST00000304992.10:c.6901C>A	ENSP00000304350.6:p.Pro2301Thr
ENST00000571958.1:c.163-63C>A
ENST00000572621.5:c.6901C>A	ENSP00000460348.1:p.Pro2301Thr
ENST00000572723.1:n.890C>A
NM_006445.3:c.6901C>A	NP_006436.3:p.Pro2301Thr
XM_024450537.1:c.6901C>A	XP_024306305.1:p.Pro2301Thr
NM_006445.4:c.6901C>A MANE Select	NP_006436.3:p.Pro2301Thr