Canonical Allele Identifier: CA8271084

Gene: PRPF8

Linked Data

• dbSNP Id: rs761136993
• ExAC: 17:1554376 C / T
• gnomAD v2: 17-1554376-C-T
• gnomAD v4: 17-1651082-C-T
• MyVariant Identifiers: chr17:g.1554376C>T (hg19) ; chr17:g.1651082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651082C>T , CM000679.2:g.1651082C>T	GRCh38
NC_000017.10:g.1554376C>T , CM000679.1:g.1554376C>T	GRCh37
NC_000017.9:g.1501126C>T	NCBI36
NG_009118.1:g.38801G>A
NG_033061.1:g.4017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+26G>A	ENSP00000460849.2:n.6673+26G>A
ENST00000703537.1:c.2601+26G>A
ENST00000703538.1:c.*6576+26G>A	ENSP00000515361.1:n.*6576+26G>A
ENST00000703539.1:n.3167+26G>A
ENST00000703540.1:c.6706+26G>A	ENSP00000515362.1:n.6706+26G>A
ENST00000703541.1:c.6718+26G>A	ENSP00000515363.1:n.6718+26G>A
ENST00000304992.11:c.6853+26G>A MANE Select	ENSP00000304350.6:n.6853+26G>A
ENST00000304992.10:c.6853+26G>A	ENSP00000304350.6:n.6853+26G>A
ENST00000571958.1:c.162+26G>A
ENST00000572621.5:c.6853+26G>A	ENSP00000460348.1:n.6853+26G>A
ENST00000572723.1:n.842+26G>A
NM_006445.3:c.6853+26G>A	NP_006436.3:n.6853+26G>A
XM_024450537.1:c.6853+26G>A	XP_024306305.1:n.6853+26G>A
NM_006445.4:c.6853+26G>A MANE Select	NP_006436.3:n.6853+26G>A