Canonical Allele Identifier: CA407750528

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54123794C>A , CM000681.2:g.54123794C>A	GRCh38
NC_000019.8:g.59318985C>A	NCBI36
NG_009759.1:g.13384C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.573C>A MANE Select	NP_056444.3:p.Cys191Ter
ENST00000321030.9:c.573C>A MANE Select	ENSP00000324122.4:p.Cys191Ter
NM_015629.3:c.573C>A	NP_056444.3:p.Cys191Ter
ENST00000321030.8:c.573C>A	ENSP00000324122.4:p.Cys191Ter
ENST00000391755.1:c.573C>A	ENSP00000375635.1:p.Cys191Ter
ENST00000419967.5:c.573C>A	ENSP00000405166.2:p.Cys191Ter
ENST00000445124.5:c.573C>A	ENSP00000408980.1:p.Cys191Ter
ENST00000445811.5:c.573C>A	ENSP00000395894.1:p.Cys191Ter
ENST00000447810.5:c.573C>A	ENSP00000395089.1:p.Cys191Ter
ENST00000466404.5:n.443C>A
ENST00000498612.1:n.356C>A
XM_006723137.2:c.573C>A	XP_006723200.1:p.Cys191Ter
XM_006723137.4:c.573C>A	XP_006723200.1:p.Cys191Ter
XR_002958293.1:n.703C>A
XR_935789.1:n.622C>A
XR_935789.3:n.634C>A