Canonical Allele Identifier: CA397561736

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1485586
• ClinVar RCV Id: RCV002000850
• dbSNP Id: rs1597223220
• MyVariant Identifiers: chr17:g.1554113C>A (hg19) ; chr17:g.1650819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650819C>A , CM000679.2:g.1650819C>A	GRCh38
NC_000017.10:g.1554113C>A , CM000679.1:g.1554113C>A	GRCh37
NC_000017.9:g.1500863C>A	NCBI36
NG_009118.1:g.39064G>T
NG_033061.1:g.4280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6811G>T	ENSP00000460849.2:p.Glu2271Ter
ENST00000703537.1:c.2739G>T
ENST00000703538.1:c.*6714G>T	ENSP00000515361.1:n.*6714G>T
ENST00000703539.1:n.3305G>T
ENST00000703540.1:c.6844G>T	ENSP00000515362.1:p.Glu2282Ter
ENST00000703541.1:c.6856G>T	ENSP00000515363.1:p.Glu2286Ter
ENST00000304992.11:c.6991G>T MANE Select	ENSP00000304350.6:p.Glu2331Ter
ENST00000304992.10:c.6991G>T	ENSP00000304350.6:p.Glu2331Ter
ENST00000571958.1:c.190G>T
ENST00000572621.5:c.6991G>T	ENSP00000460348.1:p.Glu2331Ter
NM_006445.3:c.6991G>T	NP_006436.3:p.Glu2331Ter
XM_024450537.1:c.6991G>T	XP_024306305.1:p.Glu2331Ter
NM_006445.4:c.6991G>T MANE Select	NP_006436.3:p.Glu2331Ter