Canonical Allele Identifier: CA8271111
Gene: PRPF8 HGNC NCBI

Linked Data

dbSNP Id: rs763921537
gnomAD v2: 17-1554578-G-A
gnomAD v4: 17-1651284-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1651284G>A , CM000679.2:g.1651284G>A GRCh38
NC_000017.10:g.1554578G>A , CM000679.1:g.1554578G>A GRCh37
NC_000017.9:g.1501328G>A NCBI36
NG_009118.1:g.38599C>T
NG_033061.1:g.3815C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000573725.2:c.6497C>T ENSP00000460849.2:p.Thr2166Met
ENST00000703537.1:c.2425C>T
ENST00000703538.1:c.*6400C>T ENSP00000515361.1:n.*6400C>T
ENST00000703539.1:n.2991C>T
ENST00000703540.1:c.6530C>T ENSP00000515362.1:p.Thr2177Met
ENST00000703541.1:c.6542C>T ENSP00000515363.1:p.Thr2181Met
ENST00000304992.11:c.6677C>T MANE Select ENSP00000304350.6:p.Thr2226Met
ENST00000304992.10:c.6677C>T ENSP00000304350.6:p.Thr2226Met
ENST00000572621.5:c.6677C>T ENSP00000460348.1:p.Thr2226Met
ENST00000572723.1:n.666C>T
NM_006445.3:c.6677C>T NP_006436.3:p.Thr2226Met
XM_024450537.1:c.6677C>T XP_024306305.1:p.Thr2226Met
NM_006445.4:c.6677C>T MANE Select NP_006436.3:p.Thr2226Met