Canonical Allele Identifier: CA8271807

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1673156G>A , CM000679.2:g.1673156G>A	GRCh38
NC_000017.10:g.1576450G>A , CM000679.1:g.1576450G>A	GRCh37
NC_000017.9:g.1523200G>A	NCBI36
NG_009118.1:g.16727C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.3699C>T MANE Select	NP_006436.3:p.Asp1233=
ENST00000304992.11:c.3699C>T MANE Select	ENSP00000304350.6:p.Asp1233=
NM_006445.3:c.3699C>T	NP_006436.3:p.Asp1233=
ENST00000304992.10:c.3699C>T	ENSP00000304350.6:p.Asp1233=
ENST00000572621.5:c.3699C>T	ENSP00000460348.1:p.Asp1233=
ENST00000573725.2:c.3699C>T	ENSP00000460849.2:p.Asp1233=
ENST00000574217.1:n.95C>T
ENST00000703538.1:c.*3422C>T	ENSP00000515361.1:n.*3422C>T
ENST00000703540.1:c.3552C>T	ENSP00000515362.1:p.Asp1184=
ENST00000703541.1:c.3564C>T	ENSP00000515363.1:p.Asp1188=
XM_024450537.1:c.3699C>T	XP_024306305.1:p.Asp1233=