Canonical Allele Identifier: CA397565622

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651781C>T , CM000679.2:g.1651781C>T	GRCh38
NC_000017.10:g.1555075C>T , CM000679.1:g.1555075C>T	GRCh37
NC_000017.9:g.1501825C>T	NCBI36
NG_009118.1:g.38102G>A
NG_033061.1:g.3318G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.6377G>A MANE Select	NP_006436.3:p.Gly2126Glu
ENST00000304992.11:c.6377G>A MANE Select	ENSP00000304350.6:p.Gly2126Glu
NM_006445.3:c.6377G>A	NP_006436.3:p.Gly2126Glu
ENST00000304992.10:c.6377G>A	ENSP00000304350.6:p.Gly2126Glu
ENST00000572621.5:c.6377G>A	ENSP00000460348.1:p.Gly2126Glu
ENST00000572723.1:n.366G>A
ENST00000573725.2:c.6197G>A	ENSP00000460849.2:p.Gly2066Glu
ENST00000575116.1:n.342G>A
ENST00000703537.1:c.2125G>A
ENST00000703538.1:c.*6100G>A	ENSP00000515361.1:n.*6100G>A
ENST00000703539.1:n.2691G>A
ENST00000703540.1:c.6230G>A	ENSP00000515362.1:p.Gly2077Glu
ENST00000703541.1:c.6242G>A	ENSP00000515363.1:p.Gly2081Glu
XM_024450537.1:c.6377G>A	XP_024306305.1:p.Gly2126Glu