Canonical Allele Identifier: CA8271058

Gene: PRPF8

Linked Data

• dbSNP Id: rs749519000
• ExAC: 17:1554237 G / C
• gnomAD v2: 17-1554237-G-C
• gnomAD v4: 17-1650943-G-C
• MyVariant Identifiers: chr17:g.1554237G>C (hg19) ; chr17:g.1650943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650943G>C , CM000679.2:g.1650943G>C	GRCh38
NC_000017.10:g.1554237G>C , CM000679.1:g.1554237G>C	GRCh37
NC_000017.9:g.1500987G>C	NCBI36
NG_009118.1:g.38940C>G
NG_033061.1:g.4156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6687C>G	ENSP00000460849.2:p.Asp2229Glu
ENST00000703537.1:c.2615C>G
ENST00000703538.1:c.*6590C>G	ENSP00000515361.1:n.*6590C>G
ENST00000703539.1:n.3181C>G
ENST00000703540.1:c.6720C>G	ENSP00000515362.1:p.Asp2240Glu
ENST00000703541.1:c.6732C>G	ENSP00000515363.1:p.Asp2244Glu
ENST00000304992.11:c.6867C>G MANE Select	ENSP00000304350.6:p.Asp2289Glu
ENST00000304992.10:c.6867C>G	ENSP00000304350.6:p.Asp2289Glu
ENST00000571958.1:c.163-97C>G
ENST00000572621.5:c.6867C>G	ENSP00000460348.1:p.Asp2289Glu
ENST00000572723.1:n.856C>G
NM_006445.3:c.6867C>G	NP_006436.3:p.Asp2289Glu
XM_024450537.1:c.6867C>G	XP_024306305.1:p.Asp2289Glu
NM_006445.4:c.6867C>G MANE Select	NP_006436.3:p.Asp2289Glu