Canonical Allele Identifier: CA397562065

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554182C>G (hg19) ; chr17:g.1650888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650888C>G , CM000679.2:g.1650888C>G	GRCh38
NC_000017.10:g.1554182C>G , CM000679.1:g.1554182C>G	GRCh37
NC_000017.9:g.1500932C>G	NCBI36
NG_009118.1:g.38995G>C
NG_033061.1:g.4211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6742G>C	ENSP00000460849.2:p.Val2248Leu
ENST00000703537.1:c.2670G>C
ENST00000703538.1:c.*6645G>C	ENSP00000515361.1:n.*6645G>C
ENST00000703539.1:n.3236G>C
ENST00000703540.1:c.6775G>C	ENSP00000515362.1:p.Val2259Leu
ENST00000703541.1:c.6787G>C	ENSP00000515363.1:p.Val2263Leu
ENST00000304992.11:c.6922G>C MANE Select	ENSP00000304350.6:p.Val2308Leu
ENST00000304992.10:c.6922G>C	ENSP00000304350.6:p.Val2308Leu
ENST00000571958.1:c.163-42G>C
ENST00000572621.5:c.6922G>C	ENSP00000460348.1:p.Val2308Leu
ENST00000572723.1:n.911G>C
NM_006445.3:c.6922G>C	NP_006436.3:p.Val2308Leu
XM_024450537.1:c.6922G>C	XP_024306305.1:p.Val2308Leu
NM_006445.4:c.6922G>C MANE Select	NP_006436.3:p.Val2308Leu