Canonical Allele Identifier: CA497388895

Gene: PRPF8

Linked Data

• dbSNP Id: rs1911035343
• MyVariant Identifiers: chr17:g.1554481C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651187C>T , CM000679.2:g.1651187C>T	GRCh38
NC_000017.10:g.1554481C>T , CM000679.1:g.1554481C>T	GRCh37
NC_000017.9:g.1501231C>T	NCBI36
NG_009118.1:g.38696G>A
NG_033061.1:g.3912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6594G>A	ENSP00000460849.2:p.Arg2198=
ENST00000703537.1:c.2522G>A
ENST00000703538.1:c.*6497G>A	ENSP00000515361.1:n.*6497G>A
ENST00000703539.1:n.3088G>A
ENST00000703540.1:c.6627G>A	ENSP00000515362.1:p.Arg2209=
ENST00000703541.1:c.6639G>A	ENSP00000515363.1:p.Arg2213=
ENST00000304992.11:c.6774G>A MANE Select	ENSP00000304350.6:p.Arg2258=
ENST00000304992.10:c.6774G>A	ENSP00000304350.6:p.Arg2258=
ENST00000571958.1:c.83G>A
ENST00000572621.5:c.6774G>A	ENSP00000460348.1:p.Arg2258=
ENST00000572723.1:n.763G>A
NM_006445.3:c.6774G>A	NP_006436.3:p.Arg2258=
XM_024450537.1:c.6774G>A	XP_024306305.1:p.Arg2258=
NM_006445.4:c.6774G>A MANE Select	NP_006436.3:p.Arg2258=