Canonical Allele Identifier: CA397561842

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554140C>T (hg19) ; chr17:g.1650846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650846C>T , CM000679.2:g.1650846C>T	GRCh38
NC_000017.10:g.1554140C>T , CM000679.1:g.1554140C>T	GRCh37
NC_000017.9:g.1500890C>T	NCBI36
NG_009118.1:g.39037G>A
NG_033061.1:g.4253G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6784G>A	ENSP00000460849.2:p.Glu2262Lys
ENST00000703537.1:c.2712G>A
ENST00000703538.1:c.*6687G>A	ENSP00000515361.1:n.*6687G>A
ENST00000703539.1:n.3278G>A
ENST00000703540.1:c.6817G>A	ENSP00000515362.1:p.Glu2273Lys
ENST00000703541.1:c.6829G>A	ENSP00000515363.1:p.Glu2277Lys
ENST00000304992.11:c.6964G>A MANE Select	ENSP00000304350.6:p.Glu2322Lys
ENST00000304992.10:c.6964G>A	ENSP00000304350.6:p.Glu2322Lys
ENST00000571958.1:c.163G>A
ENST00000572621.5:c.6964G>A	ENSP00000460348.1:p.Glu2322Lys
ENST00000572723.1:n.953G>A
NM_006445.3:c.6964G>A	NP_006436.3:p.Glu2322Lys
XM_024450537.1:c.6964G>A	XP_024306305.1:p.Glu2322Lys
NM_006445.4:c.6964G>A MANE Select	NP_006436.3:p.Glu2322Lys