Canonical Allele Identifier: CA8271027
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 321868
ClinVar RCV Id: RCV000260429
dbSNP Id: rs767915818
gnomAD v2: 17-1554085-C-A
gnomAD v3: 17-1650791-C-A
gnomAD v4: 17-1650791-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650791C>A , CM000679.2:g.1650791C>A GRCh38
NC_000017.10:g.1554085C>A , CM000679.1:g.1554085C>A GRCh37
NC_000017.9:g.1500835C>A NCBI36
NG_009118.1:g.39092G>T
NG_033061.1:g.4308G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000573725.2:c.*11G>T ENSP00000460849.2:n.*11G>T
ENST00000703537.1:c.2767G>T
ENST00000703538.1:c.*6742G>T ENSP00000515361.1:n.*6742G>T
ENST00000703539.1:n.3333G>T
ENST00000703540.1:c.*11G>T ENSP00000515362.1:n.*11G>T
ENST00000304992.11:c.*11G>T MANE Select ENSP00000304350.6:n.*11G>T
ENST00000304992.10:c.*11G>T ENSP00000304350.6:n.*11G>T
ENST00000571958.1:c.218G>T
ENST00000572621.5:c.*11G>T ENSP00000460348.1:n.*11G>T
NM_006445.3:c.*11G>T NP_006436.3:n.*11G>T
XM_024450537.1:c.*11G>T XP_024306305.1:n.*11G>T
NM_006445.4:c.*11G>T MANE Select NP_006436.3:n.*11G>T