Canonical Allele Identifier: CA397563916

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554500A>C (hg19) ; chr17:g.1651206A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651206A>C , CM000679.2:g.1651206A>C	GRCh38
NC_000017.10:g.1554500A>C , CM000679.1:g.1554500A>C	GRCh37
NC_000017.9:g.1501250A>C	NCBI36
NG_009118.1:g.38677T>G
NG_033061.1:g.3893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6575T>G	ENSP00000460849.2:p.Leu2192Arg
ENST00000703537.1:c.2503T>G
ENST00000703538.1:c.*6478T>G	ENSP00000515361.1:n.*6478T>G
ENST00000703539.1:n.3069T>G
ENST00000703540.1:c.6608T>G	ENSP00000515362.1:p.Leu2203Arg
ENST00000703541.1:c.6620T>G	ENSP00000515363.1:p.Leu2207Arg
ENST00000304992.11:c.6755T>G MANE Select	ENSP00000304350.6:p.Leu2252Arg
ENST00000304992.10:c.6755T>G	ENSP00000304350.6:p.Leu2252Arg
ENST00000571958.1:c.64T>G
ENST00000572621.5:c.6755T>G	ENSP00000460348.1:p.Leu2252Arg
ENST00000572723.1:n.744T>G
NM_006445.3:c.6755T>G	NP_006436.3:p.Leu2252Arg
XM_024450537.1:c.6755T>G	XP_024306305.1:p.Leu2252Arg
NM_006445.4:c.6755T>G MANE Select	NP_006436.3:p.Leu2252Arg