Canonical Allele Identifier: CA397562024

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 438226
• ClinVar RCV Id: RCV000504770 ; RCV001257799 ; RCV001231748 ; RCV001542603 ; RCV003889914
• dbSNP Id: rs752997229
• MyVariant Identifiers: chr17:g.1554176T>C (hg19) ; chr17:g.1650882T>C (hg38)
• PubMed: PMID:11468273 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650882T>C , CM000679.2:g.1650882T>C	GRCh38
NC_000017.10:g.1554176T>C , CM000679.1:g.1554176T>C	GRCh37
NC_000017.9:g.1500926T>C	NCBI36
NG_009118.1:g.39001A>G
NG_033061.1:g.4217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6748A>G	ENSP00000460849.2:p.Arg2250Gly
ENST00000703537.1:c.2676A>G
ENST00000703538.1:c.*6651A>G	ENSP00000515361.1:n.*6651A>G
ENST00000703539.1:n.3242A>G
ENST00000703540.1:c.6781A>G	ENSP00000515362.1:p.Arg2261Gly
ENST00000703541.1:c.6793A>G	ENSP00000515363.1:p.Arg2265Gly
ENST00000304992.11:c.6928A>G MANE Select	ENSP00000304350.6:p.Arg2310Gly
ENST00000304992.10:c.6928A>G	ENSP00000304350.6:p.Arg2310Gly
ENST00000571958.1:c.163-36A>G
ENST00000572621.5:c.6928A>G	ENSP00000460348.1:p.Arg2310Gly
ENST00000572723.1:n.917A>G
NM_006445.3:c.6928A>G	NP_006436.3:p.Arg2310Gly
XM_024450537.1:c.6928A>G	XP_024306305.1:p.Arg2310Gly
NM_006445.4:c.6928A>G MANE Select	NP_006436.3:p.Arg2310Gly