Canonical Allele Identifier: CA397561696

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 865924
• ClinVar RCV Id: RCV001073515 ; RCV001387349
• dbSNP Id: rs1193604660
• MyVariant Identifiers: chr17:g.1554104A>T (hg19) ; chr17:g.1650810A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650810A>T , CM000679.2:g.1650810A>T	GRCh38
NC_000017.10:g.1554104A>T , CM000679.1:g.1554104A>T	GRCh37
NC_000017.9:g.1500854A>T	NCBI36
NG_009118.1:g.39073T>A
NG_033061.1:g.4289T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6820T>A	ENSP00000460849.2:p.Tyr2274Asn
ENST00000703537.1:c.2748T>A
ENST00000703538.1:c.*6723T>A	ENSP00000515361.1:n.*6723T>A
ENST00000703539.1:n.3314T>A
ENST00000703540.1:c.6853T>A	ENSP00000515362.1:p.Tyr2285Asn
ENST00000703541.1:c.6865T>A	ENSP00000515363.1:p.Tyr2289Asn
ENST00000304992.11:c.7000T>A MANE Select	ENSP00000304350.6:p.Tyr2334Asn
ENST00000304992.10:c.7000T>A	ENSP00000304350.6:p.Tyr2334Asn
ENST00000571958.1:c.199T>A
ENST00000572621.5:c.7000T>A	ENSP00000460348.1:p.Tyr2334Asn
NM_006445.3:c.7000T>A	NP_006436.3:p.Tyr2334Asn
XM_024450537.1:c.7000T>A	XP_024306305.1:p.Tyr2334Asn
NM_006445.4:c.7000T>A MANE Select	NP_006436.3:p.Tyr2334Asn