Canonical Allele Identifier: CA2576113151

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651040-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651040G>C , CM000679.2:g.1651040G>C	GRCh38
NC_000017.10:g.1554334G>C , CM000679.1:g.1554334G>C	GRCh37
NC_000017.9:g.1501084G>C	NCBI36
NG_009118.1:g.38843C>G
NG_033061.1:g.4059C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+68C>G	ENSP00000460849.2:n.6673+68C>G
ENST00000703537.1:c.2601+68C>G
ENST00000703538.1:c.*6576+68C>G	ENSP00000515361.1:n.*6576+68C>G
ENST00000703539.1:n.3167+68C>G
ENST00000703540.1:c.6706+68C>G	ENSP00000515362.1:n.6706+68C>G
ENST00000703541.1:c.6718+68C>G	ENSP00000515363.1:n.6718+68C>G
ENST00000304992.11:c.6853+68C>G MANE Select	ENSP00000304350.6:n.6853+68C>G
ENST00000304992.10:c.6853+68C>G	ENSP00000304350.6:n.6853+68C>G
ENST00000571958.1:c.162+68C>G
ENST00000572621.5:c.6853+68C>G	ENSP00000460348.1:n.6853+68C>G
ENST00000572723.1:n.842+68C>G
NM_006445.3:c.6853+68C>G	NP_006436.3:n.6853+68C>G
XM_024450537.1:c.6853+68C>G	XP_024306305.1:n.6853+68C>G
NM_006445.4:c.6853+68C>G MANE Select	NP_006436.3:n.6853+68C>G