Canonical Allele Identifier: CA397562049

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1297107
• ClinVar RCV Id: RCV001724811
• dbSNP Id: rs2151108985
• MyVariant Identifiers: chr17:g.1554179G>C (hg19) ; chr17:g.1650885G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650885G>C , CM000679.2:g.1650885G>C	GRCh38
NC_000017.10:g.1554179G>C , CM000679.1:g.1554179G>C	GRCh37
NC_000017.9:g.1500929G>C	NCBI36
NG_009118.1:g.38998C>G
NG_033061.1:g.4214C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6745C>G	ENSP00000460849.2:p.His2249Asp
ENST00000703537.1:c.2673C>G
ENST00000703538.1:c.*6648C>G	ENSP00000515361.1:n.*6648C>G
ENST00000703539.1:n.3239C>G
ENST00000703540.1:c.6778C>G	ENSP00000515362.1:p.His2260Asp
ENST00000703541.1:c.6790C>G	ENSP00000515363.1:p.His2264Asp
ENST00000304992.11:c.6925C>G MANE Select	ENSP00000304350.6:p.His2309Asp
ENST00000304992.10:c.6925C>G	ENSP00000304350.6:p.His2309Asp
ENST00000571958.1:c.163-39C>G
ENST00000572621.5:c.6925C>G	ENSP00000460348.1:p.His2309Asp
ENST00000572723.1:n.914C>G
NM_006445.3:c.6925C>G	NP_006436.3:p.His2309Asp
XM_024450537.1:c.6925C>G	XP_024306305.1:p.His2309Asp
NM_006445.4:c.6925C>G MANE Select	NP_006436.3:p.His2309Asp