Canonical Allele Identifier: CA8271112

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1908228
• ClinVar RCV Id: RCV002596597
• dbSNP Id: rs753884759
• ExAC: 17:1554586 A / G
• gnomAD v2: 17-1554586-A-G
• gnomAD v3: 17-1651292-A-G
• gnomAD v4: 17-1651292-A-G
• MyVariant Identifiers: chr17:g.1554586A>G (hg19) ; chr17:g.1651292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651292A>G , CM000679.2:g.1651292A>G	GRCh38
NC_000017.10:g.1554586A>G , CM000679.1:g.1554586A>G	GRCh37
NC_000017.9:g.1501336A>G	NCBI36
NG_009118.1:g.38591T>C
NG_033061.1:g.3807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6489T>C	ENSP00000460849.2:p.Cys2163=
ENST00000703537.1:c.2417T>C
ENST00000703538.1:c.*6392T>C	ENSP00000515361.1:n.*6392T>C
ENST00000703539.1:n.2983T>C
ENST00000703540.1:c.6522T>C	ENSP00000515362.1:p.Cys2174=
ENST00000703541.1:c.6534T>C	ENSP00000515363.1:p.Cys2178=
ENST00000304992.11:c.6669T>C MANE Select	ENSP00000304350.6:p.Cys2223=
ENST00000304992.10:c.6669T>C	ENSP00000304350.6:p.Cys2223=
ENST00000572621.5:c.6669T>C	ENSP00000460348.1:p.Cys2223=
ENST00000572723.1:n.658T>C
NM_006445.3:c.6669T>C	NP_006436.3:p.Cys2223=
XM_024450537.1:c.6669T>C	XP_024306305.1:p.Cys2223=
NM_006445.4:c.6669T>C MANE Select	NP_006436.3:p.Cys2223=