Canonical Allele Identifier: CA407751570

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54124657G>T , CM000681.2:g.54124657G>T	GRCh38
NC_000019.8:g.59319848G>T	NCBI36
NG_009759.1:g.14247G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.855+1G>T MANE Select	NP_056444.3:n.855+1G>T
ENST00000321030.9:c.855+1G>T MANE Select	ENSP00000324122.4:n.855+1G>T
NM_015629.3:c.855+1G>T	NP_056444.3:n.855+1G>T
ENST00000321030.8:c.855+1G>T	ENSP00000324122.4:n.855+1G>T
ENST00000391755.1:c.855+1G>T	ENSP00000375635.1:n.855+1G>T
ENST00000419967.5:c.855+1G>T	ENSP00000405166.2:n.855+1G>T
ENST00000466404.5:n.725+1G>T
ENST00000498612.1:n.638+1G>T
XM_006723137.2:c.855+1G>T	XP_006723200.1:n.855+1G>T
XM_006723137.4:c.855+1G>T	XP_006723200.1:n.855+1G>T
XR_002958293.1:n.985+1G>T
XR_935789.1:n.904+1G>T
XR_935789.3:n.916+1G>T