Canonical Allele Identifier: CA397564087

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554549C>G (hg19) ; chr17:g.1651255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651255C>G , CM000679.2:g.1651255C>G	GRCh38
NC_000017.10:g.1554549C>G , CM000679.1:g.1554549C>G	GRCh37
NC_000017.9:g.1501299C>G	NCBI36
NG_009118.1:g.38628G>C
NG_033061.1:g.3844G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6526G>C	ENSP00000460849.2:p.Glu2176Gln
ENST00000703537.1:c.2454G>C
ENST00000703538.1:c.*6429G>C	ENSP00000515361.1:n.*6429G>C
ENST00000703539.1:n.3020G>C
ENST00000703540.1:c.6559G>C	ENSP00000515362.1:p.Glu2187Gln
ENST00000703541.1:c.6571G>C	ENSP00000515363.1:p.Glu2191Gln
ENST00000304992.11:c.6706G>C MANE Select	ENSP00000304350.6:p.Glu2236Gln
ENST00000304992.10:c.6706G>C	ENSP00000304350.6:p.Glu2236Gln
ENST00000571958.1:c.15G>C
ENST00000572621.5:c.6706G>C	ENSP00000460348.1:p.Glu2236Gln
ENST00000572723.1:n.695G>C
NM_006445.3:c.6706G>C	NP_006436.3:p.Glu2236Gln
XM_024450537.1:c.6706G>C	XP_024306305.1:p.Glu2236Gln
NM_006445.4:c.6706G>C MANE Select	NP_006436.3:p.Glu2236Gln