Canonical Allele Identifier: CA8271043

Gene: PRPF8

Linked Data

• dbSNP Id: rs759985156
• ExAC: 17:1554151 G / C
• gnomAD v2: 17-1554151-G-C
• gnomAD v4: 17-1650857-G-C
• MyVariant Identifiers: chr17:g.1554151G>C (hg19) ; chr17:g.1650857G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650857G>C , CM000679.2:g.1650857G>C	GRCh38
NC_000017.10:g.1554151G>C , CM000679.1:g.1554151G>C	GRCh37
NC_000017.9:g.1500901G>C	NCBI36
NG_009118.1:g.39026C>G
NG_033061.1:g.4242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6773C>G	ENSP00000460849.2:p.Ala2258Gly
ENST00000703537.1:c.2701C>G
ENST00000703538.1:c.*6676C>G	ENSP00000515361.1:n.*6676C>G
ENST00000703539.1:n.3267C>G
ENST00000703540.1:c.6806C>G	ENSP00000515362.1:p.Ala2269Gly
ENST00000703541.1:c.6818C>G	ENSP00000515363.1:p.Ala2273Gly
ENST00000304992.11:c.6953C>G MANE Select	ENSP00000304350.6:p.Ala2318Gly
ENST00000304992.10:c.6953C>G	ENSP00000304350.6:p.Ala2318Gly
ENST00000571958.1:c.163-11C>G
ENST00000572621.5:c.6953C>G	ENSP00000460348.1:p.Ala2318Gly
ENST00000572723.1:n.942C>G
NM_006445.3:c.6953C>G	NP_006436.3:p.Ala2318Gly
XM_024450537.1:c.6953C>G	XP_024306305.1:p.Ala2318Gly
NM_006445.4:c.6953C>G MANE Select	NP_006436.3:p.Ala2318Gly