Canonical Allele Identifier: CA397561946

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1001079
• ClinVar RCV Id: RCV001297310
• dbSNP Id: rs1911000944
• MyVariant Identifiers: chr17:g.1554163A>G (hg19) ; chr17:g.1650869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650869A>G , CM000679.2:g.1650869A>G	GRCh38
NC_000017.10:g.1554163A>G , CM000679.1:g.1554163A>G	GRCh37
NC_000017.9:g.1500913A>G	NCBI36
NG_009118.1:g.39014T>C
NG_033061.1:g.4230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6761T>C	ENSP00000460849.2:p.Phe2254Ser
ENST00000703537.1:c.2689T>C
ENST00000703538.1:c.*6664T>C	ENSP00000515361.1:n.*6664T>C
ENST00000703539.1:n.3255T>C
ENST00000703540.1:c.6794T>C	ENSP00000515362.1:p.Phe2265Ser
ENST00000703541.1:c.6806T>C	ENSP00000515363.1:p.Phe2269Ser
ENST00000304992.11:c.6941T>C MANE Select	ENSP00000304350.6:p.Phe2314Ser
ENST00000304992.10:c.6941T>C	ENSP00000304350.6:p.Phe2314Ser
ENST00000571958.1:c.163-23T>C
ENST00000572621.5:c.6941T>C	ENSP00000460348.1:p.Phe2314Ser
ENST00000572723.1:n.930T>C
NM_006445.3:c.6941T>C	NP_006436.3:p.Phe2314Ser
XM_024450537.1:c.6941T>C	XP_024306305.1:p.Phe2314Ser
NM_006445.4:c.6941T>C MANE Select	NP_006436.3:p.Phe2314Ser