Canonical Allele Identifier: CA397562174

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 866145
• ClinVar RCV Id: RCV001073929 ; RCV001862524
• dbSNP Id: rs1911004419
• MyVariant Identifiers: chr17:g.1554194A>C (hg19) ; chr17:g.1650900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650900A>C , CM000679.2:g.1650900A>C	GRCh38
NC_000017.10:g.1554194A>C , CM000679.1:g.1554194A>C	GRCh37
NC_000017.9:g.1500944A>C	NCBI36
NG_009118.1:g.38983T>G
NG_033061.1:g.4199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6730T>G	ENSP00000460849.2:p.Phe2244Val
ENST00000703537.1:c.2658T>G
ENST00000703538.1:c.*6633T>G	ENSP00000515361.1:n.*6633T>G
ENST00000703539.1:n.3224T>G
ENST00000703540.1:c.6763T>G	ENSP00000515362.1:p.Phe2255Val
ENST00000703541.1:c.6775T>G	ENSP00000515363.1:p.Phe2259Val
ENST00000304992.11:c.6910T>G MANE Select	ENSP00000304350.6:p.Phe2304Val
ENST00000304992.10:c.6910T>G	ENSP00000304350.6:p.Phe2304Val
ENST00000571958.1:c.163-54T>G
ENST00000572621.5:c.6910T>G	ENSP00000460348.1:p.Phe2304Val
ENST00000572723.1:n.899T>G
NM_006445.3:c.6910T>G	NP_006436.3:p.Phe2304Val
XM_024450537.1:c.6910T>G	XP_024306305.1:p.Phe2304Val
NM_006445.4:c.6910T>G MANE Select	NP_006436.3:p.Phe2304Val