Canonical Allele Identifier: CA397563868

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554486C>G (hg19) ; chr17:g.1651192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651192C>G , CM000679.2:g.1651192C>G	GRCh38
NC_000017.10:g.1554486C>G , CM000679.1:g.1554486C>G	GRCh37
NC_000017.9:g.1501236C>G	NCBI36
NG_009118.1:g.38691G>C
NG_033061.1:g.3907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6589G>C	ENSP00000460849.2:p.Glu2197Gln
ENST00000703537.1:c.2517G>C
ENST00000703538.1:c.*6492G>C	ENSP00000515361.1:n.*6492G>C
ENST00000703539.1:n.3083G>C
ENST00000703540.1:c.6622G>C	ENSP00000515362.1:p.Glu2208Gln
ENST00000703541.1:c.6634G>C	ENSP00000515363.1:p.Glu2212Gln
ENST00000304992.11:c.6769G>C MANE Select	ENSP00000304350.6:p.Glu2257Gln
ENST00000304992.10:c.6769G>C	ENSP00000304350.6:p.Glu2257Gln
ENST00000571958.1:c.78G>C
ENST00000572621.5:c.6769G>C	ENSP00000460348.1:p.Glu2257Gln
ENST00000572723.1:n.758G>C
NM_006445.3:c.6769G>C	NP_006436.3:p.Glu2257Gln
XM_024450537.1:c.6769G>C	XP_024306305.1:p.Glu2257Gln
NM_006445.4:c.6769G>C MANE Select	NP_006436.3:p.Glu2257Gln