Canonical Allele Identifier: CA2342702834

Gene: PRPF31

Linked Data

• dbSNP Id: rs587776591

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54130024C>T , CM000681.2:g.54130024C>T	GRCh38
NC_000019.8:g.59325211C>T	NCBI36
NG_009759.1:g.19610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321030.9:c.1374+654C>T MANE Select	ENSP00000324122.4:n.1374+654C>T
ENST00000321030.8:c.1374+654C>T	ENSP00000324122.4:n.1374+654C>T
ENST00000391755.1:c.1356+654C>T	ENSP00000375635.1:n.1356+654C>T
ENST00000419967.5:c.1460+654C>T	ENSP00000405166.2:n.1460+654C>T
ENST00000466404.5:n.1434+654C>T
NM_015629.3:c.1374+654C>T	NP_056444.3:n.1374+654C>T
XM_006723137.2:c.1374+654C>T	XP_006723200.1:n.1374+654C>T
XR_935789.1:n.1451+654C>T
XM_006723137.4:c.1374+654C>T	XP_006723200.1:n.1374+654C>T
XR_002958293.1:n.1618+654C>T
XR_935789.3:n.1463+654C>T
NM_015629.4:c.1374+654C>T MANE Select	NP_056444.3:n.1374+654C>T