Canonical Allele Identifier: CA397564117

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554558T>A (hg19) ; chr17:g.1651264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651264T>A , CM000679.2:g.1651264T>A	GRCh38
NC_000017.10:g.1554558T>A , CM000679.1:g.1554558T>A	GRCh37
NC_000017.9:g.1501308T>A	NCBI36
NG_009118.1:g.38619A>T
NG_033061.1:g.3835A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6517A>T	ENSP00000460849.2:p.Ser2173Cys
ENST00000703537.1:c.2445A>T
ENST00000703538.1:c.*6420A>T	ENSP00000515361.1:n.*6420A>T
ENST00000703539.1:n.3011A>T
ENST00000703540.1:c.6550A>T	ENSP00000515362.1:p.Ser2184Cys
ENST00000703541.1:c.6562A>T	ENSP00000515363.1:p.Ser2188Cys
ENST00000304992.11:c.6697A>T MANE Select	ENSP00000304350.6:p.Ser2233Cys
ENST00000304992.10:c.6697A>T	ENSP00000304350.6:p.Ser2233Cys
ENST00000571958.1:c.6A>T
ENST00000572621.5:c.6697A>T	ENSP00000460348.1:p.Ser2233Cys
ENST00000572723.1:n.686A>T
NM_006445.3:c.6697A>T	NP_006436.3:p.Ser2233Cys
XM_024450537.1:c.6697A>T	XP_024306305.1:p.Ser2233Cys
NM_006445.4:c.6697A>T MANE Select	NP_006436.3:p.Ser2233Cys