Canonical Allele Identifier: CA397564208

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554602A>T (hg19) ; chr17:g.1651308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651308A>T , CM000679.2:g.1651308A>T	GRCh38
NC_000017.10:g.1554602A>T , CM000679.1:g.1554602A>T	GRCh37
NC_000017.9:g.1501352A>T	NCBI36
NG_009118.1:g.38575T>A
NG_033061.1:g.3791T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6473T>A	ENSP00000460849.2:p.Phe2158Tyr
ENST00000703537.1:c.2401T>A
ENST00000703538.1:c.*6376T>A	ENSP00000515361.1:n.*6376T>A
ENST00000703539.1:n.2967T>A
ENST00000703540.1:c.6506T>A	ENSP00000515362.1:p.Phe2169Tyr
ENST00000703541.1:c.6518T>A	ENSP00000515363.1:p.Phe2173Tyr
ENST00000304992.11:c.6653T>A MANE Select	ENSP00000304350.6:p.Phe2218Tyr
ENST00000304992.10:c.6653T>A	ENSP00000304350.6:p.Phe2218Tyr
ENST00000572621.5:c.6653T>A	ENSP00000460348.1:p.Phe2218Tyr
ENST00000572723.1:n.642T>A
NM_006445.3:c.6653T>A	NP_006436.3:p.Phe2218Tyr
XM_024450537.1:c.6653T>A	XP_024306305.1:p.Phe2218Tyr
NM_006445.4:c.6653T>A MANE Select	NP_006436.3:p.Phe2218Tyr