Canonical Allele Identifier: CA8271011

Gene: PRPF8

Linked Data

• dbSNP Id: rs748977714
• ExAC: 17:1554048 G / C
• gnomAD v2: 17-1554048-G-C
• MyVariant Identifiers: chr17:g.1554048G>C (hg19) ; chr17:g.1650754G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650754G>C , CM000679.2:g.1650754G>C	GRCh38
NC_000017.10:g.1554048G>C , CM000679.1:g.1554048G>C	GRCh37
NC_000017.9:g.1500798G>C	NCBI36
NG_009118.1:g.39129C>G
NG_033061.1:g.4345C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.*48C>G	ENSP00000460849.2:n.*48C>G
ENST00000703537.1:c.2804C>G
ENST00000703538.1:c.*6779C>G	ENSP00000515361.1:n.*6779C>G
ENST00000703539.1:n.3370C>G
ENST00000703540.1:c.*48C>G	ENSP00000515362.1:n.*48C>G
ENST00000304992.11:c.*48C>G MANE Select	ENSP00000304350.6:n.*48C>G
ENST00000304992.10:c.*48C>G	ENSP00000304350.6:n.*48C>G
ENST00000571958.1:c.255C>G
ENST00000572621.5:c.*48C>G	ENSP00000460348.1:n.*48C>G
NM_006445.3:c.*48C>G	NP_006436.3:n.*48C>G
XM_024450537.1:c.*48C>G	XP_024306305.1:n.*48C>G
NM_006445.4:c.*48C>G MANE Select	NP_006436.3:n.*48C>G