Canonical Allele Identifier: CA397569805

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1655534G>A , CM000679.2:g.1655534G>A	GRCh38
NC_000017.10:g.1558828G>A , CM000679.1:g.1558828G>A	GRCh37
NC_000017.9:g.1505578G>A	NCBI36
NG_009118.1:g.34349C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.5803C>T MANE Select	NP_006436.3:p.Arg1935Cys
ENST00000304992.11:c.5803C>T MANE Select	ENSP00000304350.6:p.Arg1935Cys
NM_006445.3:c.5803C>T	NP_006436.3:p.Arg1935Cys
ENST00000304992.10:c.5803C>T	ENSP00000304350.6:p.Arg1935Cys
ENST00000572621.5:c.5803C>T	ENSP00000460348.1:p.Arg1935Cys
ENST00000573725.2:c.5623C>T	ENSP00000460849.2:p.Arg1875Cys
ENST00000703537.1:c.1551C>T
ENST00000703538.1:c.*5526C>T	ENSP00000515361.1:n.*5526C>T
ENST00000703539.1:n.2117C>T
ENST00000703540.1:c.5656C>T	ENSP00000515362.1:p.Arg1886Cys
ENST00000703541.1:c.5668C>T	ENSP00000515363.1:p.Arg1890Cys
XM_024450537.1:c.5803C>T	XP_024306305.1:p.Arg1935Cys