Canonical Allele Identifier: CA2576113184

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651326G>A , CM000679.2:g.1651326G>A	GRCh38
NC_000017.10:g.1554620G>A , CM000679.1:g.1554620G>A	GRCh37
NC_000017.9:g.1501370G>A	NCBI36
NG_009118.1:g.38557C>T
NG_033061.1:g.3773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6471-16C>T	ENSP00000460849.2:n.6471-16C>T
ENST00000703537.1:c.2399-16C>T
ENST00000703538.1:c.*6374-16C>T	ENSP00000515361.1:n.*6374-16C>T
ENST00000703539.1:n.2965-16C>T
ENST00000703540.1:c.6504-16C>T	ENSP00000515362.1:n.6504-16C>T
ENST00000703541.1:c.6516-16C>T	ENSP00000515363.1:n.6516-16C>T
ENST00000304992.11:c.6651-16C>T MANE Select	ENSP00000304350.6:n.6651-16C>T
ENST00000304992.10:c.6651-16C>T	ENSP00000304350.6:n.6651-16C>T
ENST00000572621.5:c.6651-16C>T	ENSP00000460348.1:n.6651-16C>T
ENST00000572723.1:n.640-16C>T
NM_006445.3:c.6651-16C>T	NP_006436.3:n.6651-16C>T
XM_024450537.1:c.6651-16C>T	XP_024306305.1:n.6651-16C>T
NM_006445.4:c.6651-16C>T MANE Select	NP_006436.3:n.6651-16C>T