Canonical Allele Identifier: CA397562081

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554184T>C (hg19) ; chr17:g.1650890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650890T>C , CM000679.2:g.1650890T>C	GRCh38
NC_000017.10:g.1554184T>C , CM000679.1:g.1554184T>C	GRCh37
NC_000017.9:g.1500934T>C	NCBI36
NG_009118.1:g.38993A>G
NG_033061.1:g.4209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6740A>G	ENSP00000460849.2:p.Glu2247Gly
ENST00000703537.1:c.2668A>G
ENST00000703538.1:c.*6643A>G	ENSP00000515361.1:n.*6643A>G
ENST00000703539.1:n.3234A>G
ENST00000703540.1:c.6773A>G	ENSP00000515362.1:p.Glu2258Gly
ENST00000703541.1:c.6785A>G	ENSP00000515363.1:p.Glu2262Gly
ENST00000304992.11:c.6920A>G MANE Select	ENSP00000304350.6:p.Glu2307Gly
ENST00000304992.10:c.6920A>G	ENSP00000304350.6:p.Glu2307Gly
ENST00000571958.1:c.163-44A>G
ENST00000572621.5:c.6920A>G	ENSP00000460348.1:p.Glu2307Gly
ENST00000572723.1:n.909A>G
NM_006445.3:c.6920A>G	NP_006436.3:p.Glu2307Gly
XM_024450537.1:c.6920A>G	XP_024306305.1:p.Glu2307Gly
NM_006445.4:c.6920A>G MANE Select	NP_006436.3:p.Glu2307Gly