Canonical Allele Identifier: CA286812742

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1678790T>C , CM000679.2:g.1678790T>C	GRCh38
NC_000017.10:g.1582084T>C , CM000679.1:g.1582084T>C	GRCh37
NC_000017.9:g.1528834T>C	NCBI36
NG_009118.1:g.11093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.1691A>G	ENSP00000460849.2:p.Tyr564Cys
ENST00000703538.1:c.*1414A>G	ENSP00000515361.1:n.*1414A>G
ENST00000703540.1:c.1691A>G	ENSP00000515362.1:p.Tyr564Cys
ENST00000703541.1:c.1691A>G	ENSP00000515363.1:p.Tyr564Cys
ENST00000304992.11:c.1691A>G MANE Select	ENSP00000304350.6:p.Tyr564Cys
ENST00000304992.10:c.1691A>G	ENSP00000304350.6:p.Tyr564Cys
ENST00000572621.5:c.1691A>G	ENSP00000460348.1:p.Tyr564Cys
ENST00000573716.1:n.302A>G
ENST00000577001.1:c.1526A>G	ENSP00000458151.1:p.Tyr509Cys
NM_006445.3:c.1691A>G	NP_006436.3:p.Tyr564Cys
XM_024450537.1:c.1691A>G	XP_024306305.1:p.Tyr564Cys
NM_006445.4:c.1691A>G MANE Select	NP_006436.3:p.Tyr564Cys