Canonical Allele Identifier: CA2697556106

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2756785
• ClinVar RCV Id: RCV003566964

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651105T>G , CM000679.2:g.1651105T>G	GRCh38
NC_000017.10:g.1554399T>G , CM000679.1:g.1554399T>G	GRCh37
NC_000017.9:g.1501149T>G	NCBI36
NG_009118.1:g.38778A>C
NG_033061.1:g.3994A>C

Transcript Alleles

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