Canonical Allele Identifier: CA8271805
Gene: PRPF8 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.1673126G>A
GRCh37 chr17:g.1576420G>A
gnomAD v2:
17:1576420 G / A
gnomAD v3:
17:1673126 G / A
gnomAD v4:
chr17-1673126-G-A
Joint Max Group AF 0.00009358 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00009611 (NFE)
ClinVar RCV:
RCV000273579
RCV003727676
ClinVar Variation:
321890
dbSNP:
370510856
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1673126G>A , CM000679.2:g.1673126G>A GRCh38
NC_000017.10:g.1576420G>A , CM000679.1:g.1576420G>A GRCh37
NC_000017.9:g.1523170G>A NCBI36
NG_009118.1:g.16757C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000573725.2:c.3729C>T ENSP00000460849.2:p.Arg1243=
ENST00000703538.1:c.*3452C>T ENSP00000515361.1:n.*3452C>T
ENST00000703540.1:c.3582C>T ENSP00000515362.1:p.Arg1194=
ENST00000703541.1:c.3594C>T ENSP00000515363.1:p.Arg1198=
ENST00000304992.11:c.3729C>T MANE Select ENSP00000304350.6:p.Arg1243=
ENST00000304992.10:c.3729C>T ENSP00000304350.6:p.Arg1243=
ENST00000572621.5:c.3729C>T ENSP00000460348.1:p.Arg1243=
ENST00000574217.1:n.125C>T
NM_006445.3:c.3729C>T NP_006436.3:p.Arg1243=
XM_024450537.1:c.3729C>T XP_024306305.1:p.Arg1243=
NM_006445.4:c.3729C>T MANE Select NP_006436.3:p.Arg1243=
Search 100 bp 5'
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