Canonical Allele Identifier: CA259878

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 30666
• ClinVar RCV Id: RCV000023643
• dbSNP Id: rs387906971
• MyVariant Identifiers: chr17:g.1556852G>A (hg19) ; chr17:g.1653558G>A (hg38)
• PubMed: PMID:20232351 ; PMID:22039234

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1653558G>A , CM000679.2:g.1653558G>A	GRCh38
NC_000017.10:g.1556852G>A , CM000679.1:g.1556852G>A	GRCh37
NC_000017.9:g.1503602G>A	NCBI36
NG_009118.1:g.36325C>T
NG_033061.1:g.1541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6173C>T	ENSP00000460849.2:p.Ser2058Phe
ENST00000703537.1:c.2101C>T
ENST00000703538.1:c.*6076C>T	ENSP00000515361.1:n.*6076C>T
ENST00000703539.1:n.2667C>T
ENST00000703540.1:c.6206C>T	ENSP00000515362.1:p.Ser2069Phe
ENST00000703541.1:c.6218C>T	ENSP00000515363.1:p.Ser2073Phe
ENST00000304992.11:c.6353C>T MANE Select	ENSP00000304350.6:p.Ser2118Phe
ENST00000304992.10:c.6353C>T	ENSP00000304350.6:p.Ser2118Phe
ENST00000572621.5:c.6353C>T	ENSP00000460348.1:p.Ser2118Phe
ENST00000575116.1:n.261C>T
ENST00000576585.1:n.1330C>T
NM_006445.3:c.6353C>T	NP_006436.3:p.Ser2118Phe
XM_024450537.1:c.6353C>T	XP_024306305.1:p.Ser2118Phe
NM_006445.4:c.6353C>T MANE Select	NP_006436.3:p.Ser2118Phe