Canonical Allele Identifier: CA397575552

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1660530G>A , CM000679.2:g.1660530G>A	GRCh38
NC_000017.10:g.1563824G>A , CM000679.1:g.1563824G>A	GRCh37
NC_000017.9:g.1510574G>A	NCBI36
NG_009118.1:g.29353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.4507C>T	ENSP00000460849.2:p.His1503Tyr
ENST00000703537.1:c.498C>T
ENST00000703538.1:c.*4410C>T	ENSP00000515361.1:n.*4410C>T
ENST00000703539.1:n.1001C>T
ENST00000703540.1:c.4540C>T	ENSP00000515362.1:p.His1514Tyr
ENST00000703541.1:c.4552C>T	ENSP00000515363.1:p.His1518Tyr
ENST00000304992.11:c.4687C>T MANE Select	ENSP00000304350.6:p.His1563Tyr
ENST00000304992.10:c.4687C>T	ENSP00000304350.6:p.His1563Tyr
ENST00000572621.5:c.4687C>T	ENSP00000460348.1:p.His1563Tyr
ENST00000573681.1:n.408C>T
ENST00000573725.1:c.618C>T
NM_006445.3:c.4687C>T	NP_006436.3:p.His1563Tyr
XM_024450537.1:c.4687C>T	XP_024306305.1:p.His1563Tyr
NM_006445.4:c.4687C>T MANE Select	NP_006436.3:p.His1563Tyr