Canonical Allele Identifier: CA980655

Gene: PRPF38B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108699346C>T , CM000663.2:g.108699346C>T	GRCh38
NC_000001.10:g.109241968C>T , CM000663.1:g.109241968C>T	GRCh37
NC_000001.9:g.109043491C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018061.4:c.967C>T MANE Select	NP_060531.2:p.Arg323Trp
ENST00000370025.9:c.967C>T MANE Select	ENSP00000359042.4:p.Arg323Trp
NM_001349757.1:c.634C>T	NP_001336686.1:p.Arg212Trp
NM_001349757.2:c.634C>T	NP_001336686.1:p.Arg212Trp
NM_001349758.1:c.415C>T	NP_001336687.1:p.Arg139Trp
NM_001349758.2:c.415C>T	NP_001336687.1:p.Arg139Trp
NM_001349759.1:c.415C>T	NP_001336688.1:p.Arg139Trp
NM_001349759.2:c.415C>T	NP_001336688.1:p.Arg139Trp
NM_001349761.1:c.532C>T	NP_001336690.1:p.Arg178Trp
NM_001349761.2:c.532C>T	NP_001336690.1:p.Arg178Trp
NM_001349762.1:c.532C>T	NP_001336691.1:p.Arg178Trp
NM_001349762.2:c.532C>T	NP_001336691.1:p.Arg178Trp
NM_001349763.1:c.421C>T	NP_001336692.1:p.Arg141Trp
NM_001349763.2:c.421C>T	NP_001336692.1:p.Arg141Trp
NM_001349764.1:c.421C>T	NP_001336693.1:p.Arg141Trp
NM_001349764.2:c.421C>T	NP_001336693.1:p.Arg141Trp
NM_001349765.1:c.421C>T	NP_001336694.1:p.Arg141Trp
NM_001349765.2:c.421C>T	NP_001336694.1:p.Arg141Trp
NM_001349766.1:c.376C>T	NP_001336695.1:p.Arg126Trp
NM_001349766.2:c.376C>T	NP_001336695.1:p.Arg126Trp
NM_001349767.1:c.376C>T	NP_001336696.1:p.Arg126Trp
NM_001349767.2:c.376C>T	NP_001336696.1:p.Arg126Trp
NM_001349768.1:c.376C>T	NP_001336697.1:p.Arg126Trp
NM_001349768.2:c.376C>T	NP_001336697.1:p.Arg126Trp
NM_001349769.1:c.376C>T	NP_001336698.1:p.Arg126Trp
NM_001349769.2:c.376C>T	NP_001336698.1:p.Arg126Trp
NM_001349770.1:c.376C>T	NP_001336699.1:p.Arg126Trp
NM_001349770.2:c.376C>T	NP_001336699.1:p.Arg126Trp
NM_001349771.1:c.376C>T	NP_001336700.1:p.Arg126Trp
NM_001349771.2:c.376C>T	NP_001336700.1:p.Arg126Trp
NM_018061.2:c.967C>T	NP_060531.2:p.Arg323Trp
NM_018061.3:c.967C>T	NP_060531.2:p.Arg323Trp
NR_037185.1:n.1299C>T
ENST00000370021.1:c.634C>T	ENSP00000359038.1:p.Arg212Trp
ENST00000370025.8:c.967C>T	ENSP00000359042.4:p.Arg323Trp
ENST00000485810.1:n.1313C>T
XM_006710726.2:c.415C>T	XP_006710789.1:p.Arg139Trp
XM_011541685.1:c.376C>T	XP_011539987.1:p.Arg126Trp
XM_017001597.1:c.415C>T	XP_016857086.1:p.Arg139Trp
XR_001737263.2:n.2057C>T
XR_001737264.2:n.1974C>T