Canonical Allele Identifier: CA407751375

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54124622T>C , CM000681.2:g.54124622T>C	GRCh38
NC_000019.8:g.59319813T>C	NCBI36
NG_009759.1:g.14212T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.821T>C MANE Select	NP_056444.3:p.Ile274Thr
ENST00000321030.9:c.821T>C MANE Select	ENSP00000324122.4:p.Ile274Thr
NM_015629.3:c.821T>C	NP_056444.3:p.Ile274Thr
ENST00000321030.8:c.821T>C	ENSP00000324122.4:p.Ile274Thr
ENST00000391755.1:c.821T>C	ENSP00000375635.1:p.Ile274Thr
ENST00000419967.5:c.821T>C	ENSP00000405166.2:p.Ile274Thr
ENST00000445124.5:c.821T>C	ENSP00000408980.1:p.Ile274Thr
ENST00000445811.5:c.821T>C	ENSP00000395894.1:p.Ile274Thr
ENST00000466404.5:n.691T>C
ENST00000498612.1:n.604T>C
XM_006723137.2:c.821T>C	XP_006723200.1:p.Ile274Thr
XM_006723137.4:c.821T>C	XP_006723200.1:p.Ile274Thr
XR_002958293.1:n.951T>C
XR_935789.1:n.870T>C
XR_935789.3:n.882T>C