Canonical Allele Identifier: CA8271041

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650844C>G , CM000679.2:g.1650844C>G	GRCh38
NC_000017.10:g.1554138C>G , CM000679.1:g.1554138C>G	GRCh37
NC_000017.9:g.1500888C>G	NCBI36
NG_009118.1:g.39039G>C
NG_033061.1:g.4255G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.6966G>C MANE Select	NP_006436.3:p.Glu2322Asp
ENST00000304992.11:c.6966G>C MANE Select	ENSP00000304350.6:p.Glu2322Asp
NM_006445.3:c.6966G>C	NP_006436.3:p.Glu2322Asp
ENST00000304992.10:c.6966G>C	ENSP00000304350.6:p.Glu2322Asp
ENST00000571958.1:c.165G>C
ENST00000572621.5:c.6966G>C	ENSP00000460348.1:p.Glu2322Asp
ENST00000572723.1:n.955G>C
ENST00000573725.2:c.6786G>C	ENSP00000460849.2:p.Glu2262Asp
ENST00000703537.1:c.2714G>C
ENST00000703538.1:c.*6689G>C	ENSP00000515361.1:n.*6689G>C
ENST00000703539.1:n.3280G>C
ENST00000703540.1:c.6819G>C	ENSP00000515362.1:p.Glu2273Asp
ENST00000703541.1:c.6831G>C	ENSP00000515363.1:p.Glu2277Asp
XM_024450537.1:c.6966G>C	XP_024306305.1:p.Glu2322Asp