Canonical Allele Identifier: CA397562443

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554227T>C (hg19) ; chr17:g.1650933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650933T>C , CM000679.2:g.1650933T>C	GRCh38
NC_000017.10:g.1554227T>C , CM000679.1:g.1554227T>C	GRCh37
NC_000017.9:g.1500977T>C	NCBI36
NG_009118.1:g.38950A>G
NG_033061.1:g.4166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6697A>G	ENSP00000460849.2:p.Lys2233Glu
ENST00000703537.1:c.2625A>G
ENST00000703538.1:c.*6600A>G	ENSP00000515361.1:n.*6600A>G
ENST00000703539.1:n.3191A>G
ENST00000703540.1:c.6730A>G	ENSP00000515362.1:p.Lys2244Glu
ENST00000703541.1:c.6742A>G	ENSP00000515363.1:p.Lys2248Glu
ENST00000304992.11:c.6877A>G MANE Select	ENSP00000304350.6:p.Lys2293Glu
ENST00000304992.10:c.6877A>G	ENSP00000304350.6:p.Lys2293Glu
ENST00000571958.1:c.163-87A>G
ENST00000572621.5:c.6877A>G	ENSP00000460348.1:p.Lys2293Glu
ENST00000572723.1:n.866A>G
NM_006445.3:c.6877A>G	NP_006436.3:p.Lys2293Glu
XM_024450537.1:c.6877A>G	XP_024306305.1:p.Lys2293Glu
NM_006445.4:c.6877A>G MANE Select	NP_006436.3:p.Lys2293Glu