Canonical Allele Identifier: CA8272592

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1681870G>A , CM000679.2:g.1681870G>A	GRCh38
NC_000017.10:g.1585164G>A , CM000679.1:g.1585164G>A	GRCh37
NC_000017.9:g.1531914G>A	NCBI36
NG_009118.1:g.8013C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.603C>T MANE Select	NP_006436.3:p.Ala201=
ENST00000304992.11:c.603C>T MANE Select	ENSP00000304350.6:p.Ala201=
NM_006445.3:c.603C>T	NP_006436.3:p.Ala201=
ENST00000304992.10:c.603C>T	ENSP00000304350.6:p.Ala201=
ENST00000572621.5:c.603C>T	ENSP00000460348.1:p.Ala201=
ENST00000573725.2:c.603C>T	ENSP00000460849.2:p.Ala201=
ENST00000577001.1:c.438C>T	ENSP00000458151.1:p.Ala146=
ENST00000703538.1:c.*326C>T	ENSP00000515361.1:n.*326C>T
ENST00000703540.1:c.603C>T	ENSP00000515362.1:p.Ala201=
ENST00000703541.1:c.603C>T	ENSP00000515363.1:p.Ala201=
ENST00000703542.1:n.403C>T
XM_024450537.1:c.603C>T	XP_024306305.1:p.Ala201=