Canonical Allele Identifier: CA8271030

Gene: PRPF8

Linked Data

• dbSNP Id: rs778438685
• ExAC: 17:1554097 C / T
• gnomAD v2: 17-1554097-C-T
• COSMIC: COSM436073
• MyVariant Identifiers: chr17:g.1554097C>T (hg19) ; chr17:g.1650803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650803C>T , CM000679.2:g.1650803C>T	GRCh38
NC_000017.10:g.1554097C>T , CM000679.1:g.1554097C>T	GRCh37
NC_000017.9:g.1500847C>T	NCBI36
NG_009118.1:g.39080G>A
NG_033061.1:g.4296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6827G>A	ENSP00000460849.2:p.Ter2276=
ENST00000703537.1:c.2755G>A
ENST00000703538.1:c.*6730G>A	ENSP00000515361.1:n.*6730G>A
ENST00000703539.1:n.3321G>A
ENST00000703540.1:c.6860G>A	ENSP00000515362.1:p.Ter2287=
ENST00000703541.1:c.6872G>A	ENSP00000515363.1:p.Ter2291=
ENST00000304992.11:c.7007G>A MANE Select	ENSP00000304350.6:p.Ter2336=
ENST00000304992.10:c.7007G>A	ENSP00000304350.6:p.Ter2336=
ENST00000571958.1:c.206G>A
ENST00000572621.5:c.7007G>A	ENSP00000460348.1:p.Ter2336=
NM_006445.3:c.7007G>A	NP_006436.3:p.Ter2336=
XM_024450537.1:c.7007G>A	XP_024306305.1:p.Ter2336=
NM_006445.4:c.7007G>A MANE Select	NP_006436.3:p.Ter2336=