Canonical Allele Identifier: CA397564053

Gene: PRPF8

Linked Data

• dbSNP Id: rs1414478127
• gnomAD v2: 17-1554540-G-A
• gnomAD v3: 17-1651246-G-A
• gnomAD v4: 17-1651246-G-A
• COSMIC: COSM5484073
• MyVariant Identifiers: chr17:g.1554540G>A (hg19) ; chr17:g.1651246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651246G>A , CM000679.2:g.1651246G>A	GRCh38
NC_000017.10:g.1554540G>A , CM000679.1:g.1554540G>A	GRCh37
NC_000017.9:g.1501290G>A	NCBI36
NG_009118.1:g.38637C>T
NG_033061.1:g.3853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6535C>T	ENSP00000460849.2:p.Arg2179Cys
ENST00000703537.1:c.2463C>T
ENST00000703538.1:c.*6438C>T	ENSP00000515361.1:n.*6438C>T
ENST00000703539.1:n.3029C>T
ENST00000703540.1:c.6568C>T	ENSP00000515362.1:p.Arg2190Cys
ENST00000703541.1:c.6580C>T	ENSP00000515363.1:p.Arg2194Cys
ENST00000304992.11:c.6715C>T MANE Select	ENSP00000304350.6:p.Arg2239Cys
ENST00000304992.10:c.6715C>T	ENSP00000304350.6:p.Arg2239Cys
ENST00000571958.1:c.24C>T
ENST00000572621.5:c.6715C>T	ENSP00000460348.1:p.Arg2239Cys
ENST00000572723.1:n.704C>T
NM_006445.3:c.6715C>T	NP_006436.3:p.Arg2239Cys
XM_024450537.1:c.6715C>T	XP_024306305.1:p.Arg2239Cys
NM_006445.4:c.6715C>T MANE Select	NP_006436.3:p.Arg2239Cys