Canonical Allele Identifier: CA397562186

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554197C>A (hg19) ; chr17:g.1650903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650903C>A , CM000679.2:g.1650903C>A	GRCh38
NC_000017.10:g.1554197C>A , CM000679.1:g.1554197C>A	GRCh37
NC_000017.9:g.1500947C>A	NCBI36
NG_009118.1:g.38980G>T
NG_033061.1:g.4196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6727G>T	ENSP00000460849.2:p.Glu2243Ter
ENST00000703537.1:c.2655G>T
ENST00000703538.1:c.*6630G>T	ENSP00000515361.1:n.*6630G>T
ENST00000703539.1:n.3221G>T
ENST00000703540.1:c.6760G>T	ENSP00000515362.1:p.Glu2254Ter
ENST00000703541.1:c.6772G>T	ENSP00000515363.1:p.Glu2258Ter
ENST00000304992.11:c.6907G>T MANE Select	ENSP00000304350.6:p.Glu2303Ter
ENST00000304992.10:c.6907G>T	ENSP00000304350.6:p.Glu2303Ter
ENST00000571958.1:c.163-57G>T
ENST00000572621.5:c.6907G>T	ENSP00000460348.1:p.Glu2303Ter
ENST00000572723.1:n.896G>T
NM_006445.3:c.6907G>T	NP_006436.3:p.Glu2303Ter
XM_024450537.1:c.6907G>T	XP_024306305.1:p.Glu2303Ter
NM_006445.4:c.6907G>T MANE Select	NP_006436.3:p.Glu2303Ter