Canonical Allele Identifier: CA397561775

Gene: PRPF8

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650832G>C , CM000679.2:g.1650832G>C	GRCh38
NC_000017.10:g.1554126G>C , CM000679.1:g.1554126G>C	GRCh37
NC_000017.9:g.1500876G>C	NCBI36
NG_009118.1:g.39051C>G
NG_033061.1:g.4267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6798C>G	ENSP00000460849.2:p.Tyr2266Ter
ENST00000703537.1:c.2726C>G
ENST00000703538.1:c.*6701C>G	ENSP00000515361.1:n.*6701C>G
ENST00000703539.1:n.3292C>G
ENST00000703540.1:c.6831C>G	ENSP00000515362.1:p.Tyr2277Ter
ENST00000703541.1:c.6843C>G	ENSP00000515363.1:p.Tyr2281Ter
ENST00000304992.11:c.6978C>G MANE Select	ENSP00000304350.6:p.Tyr2326Ter
ENST00000304992.10:c.6978C>G	ENSP00000304350.6:p.Tyr2326Ter
ENST00000571958.1:c.177C>G
ENST00000572621.5:c.6978C>G	ENSP00000460348.1:p.Tyr2326Ter
NM_006445.3:c.6978C>G	NP_006436.3:p.Tyr2326Ter
XM_024450537.1:c.6978C>G	XP_024306305.1:p.Tyr2326Ter
NM_006445.4:c.6978C>G MANE Select	NP_006436.3:p.Tyr2326Ter