Canonical Allele Identifier: CA397561645

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1066917
• ClinVar RCV Id: RCV001378044
• dbSNP Id: rs778438685
• MyVariant Identifiers: chr17:g.1554097C>G (hg19) ; chr17:g.1650803C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650803C>G , CM000679.2:g.1650803C>G	GRCh38
NC_000017.10:g.1554097C>G , CM000679.1:g.1554097C>G	GRCh37
NC_000017.9:g.1500847C>G	NCBI36
NG_009118.1:g.39080G>C
NG_033061.1:g.4296G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6827G>C	ENSP00000460849.2:p.Ter2276Ser
ENST00000703537.1:c.2755G>C
ENST00000703538.1:c.*6730G>C	ENSP00000515361.1:n.*6730G>C
ENST00000703539.1:n.3321G>C
ENST00000703540.1:c.6860G>C	ENSP00000515362.1:p.Ter2287Ser
ENST00000703541.1:c.6872G>C	ENSP00000515363.1:p.Ter2291Ser
ENST00000304992.11:c.7007G>C MANE Select	ENSP00000304350.6:p.Ter2336Ser
ENST00000304992.10:c.7007G>C	ENSP00000304350.6:p.Ter2336Ser
ENST00000571958.1:c.206G>C
ENST00000572621.5:c.7007G>C	ENSP00000460348.1:p.Ter2336Ser
NM_006445.3:c.7007G>C	NP_006436.3:p.Ter2336Ser
XM_024450537.1:c.7007G>C	XP_024306305.1:p.Ter2336Ser
NM_006445.4:c.7007G>C MANE Select	NP_006436.3:p.Ter2336Ser