Canonical Allele Identifier: CA407753046

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54128119G>A , CM000681.2:g.54128119G>A	GRCh38
NC_000019.8:g.59323306G>A	NCBI36
NG_009759.1:g.17705G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.992G>A MANE Select	NP_056444.3:p.Trp331Ter
ENST00000321030.9:c.992G>A MANE Select	ENSP00000324122.4:p.Trp331Ter
NM_015629.3:c.992G>A	NP_056444.3:p.Trp331Ter
ENST00000321030.8:c.992G>A	ENSP00000324122.4:p.Trp331Ter
ENST00000391755.1:c.974G>A	ENSP00000375635.1:p.Trp325Ter
ENST00000419967.5:c.992G>A	ENSP00000405166.2:p.Trp331Ter
ENST00000466404.5:n.862G>A
ENST00000498612.1:n.803G>A
XM_006723137.2:c.992G>A	XP_006723200.1:p.Trp331Ter
XM_006723137.4:c.992G>A	XP_006723200.1:p.Trp331Ter
XR_002958293.1:n.1150G>A
XR_935789.1:n.1069G>A
XR_935789.3:n.1081G>A