Canonical Allele Identifier: CA253139

Gene: PRPF31

Linked Data

• ClinVar Variation Id: 4366
• ClinVar RCV Id: RCV000004614 ; RCV001092520
• dbSNP Id: rs587776591
• MyVariant Identifiers: chr19:g.54130024C>G (hg38)
• PubMed: PMID:5764686 ; PMID:9345108 ; PMID:16708387 ; PMID:19618371

Genomic Alleles

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

Transcript Alleles

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