Canonical Allele Identifier: CA397562631

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1467766
• ClinVar RCV Id: RCV001966543
• dbSNP Id: rs1293883059
• gnomAD v2: 17-1554245-G-A
• gnomAD v4: 17-1650951-G-A
• MyVariant Identifiers: chr17:g.1554245G>A (hg19) ; chr17:g.1650951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650951G>A , CM000679.2:g.1650951G>A	GRCh38
NC_000017.10:g.1554245G>A , CM000679.1:g.1554245G>A	GRCh37
NC_000017.9:g.1500995G>A	NCBI36
NG_009118.1:g.38932C>T
NG_033061.1:g.4148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6679C>T	ENSP00000460849.2:p.Arg2227Trp
ENST00000703537.1:c.2607C>T
ENST00000703538.1:c.*6582C>T	ENSP00000515361.1:n.*6582C>T
ENST00000703539.1:n.3173C>T
ENST00000703540.1:c.6712C>T	ENSP00000515362.1:p.Arg2238Trp
ENST00000703541.1:c.6724C>T	ENSP00000515363.1:p.Arg2242Trp
ENST00000304992.11:c.6859C>T MANE Select	ENSP00000304350.6:p.Arg2287Trp
ENST00000304992.10:c.6859C>T	ENSP00000304350.6:p.Arg2287Trp
ENST00000571958.1:c.163-105C>T
ENST00000572621.5:c.6859C>T	ENSP00000460348.1:p.Arg2287Trp
ENST00000572723.1:n.848C>T
NM_006445.3:c.6859C>T	NP_006436.3:p.Arg2287Trp
XM_024450537.1:c.6859C>T	XP_024306305.1:p.Arg2287Trp
NM_006445.4:c.6859C>T MANE Select	NP_006436.3:p.Arg2287Trp