Canonical Allele Identifier: CA8271074

Gene: PRPF8

Linked Data

• dbSNP Id: rs781270941
• ExAC: 17:1554276 G / T
• gnomAD v2: 17-1554276-G-T
• gnomAD v4: 17-1650982-G-T
• MyVariant Identifiers: chr17:g.1554276G>T (hg19) ; chr17:g.1650982G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650982G>T , CM000679.2:g.1650982G>T	GRCh38
NC_000017.10:g.1554276G>T , CM000679.1:g.1554276G>T	GRCh37
NC_000017.9:g.1501026G>T	NCBI36
NG_009118.1:g.38901C>A
NG_033061.1:g.4117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-26C>A	ENSP00000460849.2:n.6674-26C>A
ENST00000703537.1:c.2602-26C>A
ENST00000703538.1:c.*6577-26C>A	ENSP00000515361.1:n.*6577-26C>A
ENST00000703539.1:n.3168-26C>A
ENST00000703540.1:c.6707-26C>A	ENSP00000515362.1:n.6707-26C>A
ENST00000703541.1:c.6719-26C>A	ENSP00000515363.1:n.6719-26C>A
ENST00000304992.11:c.6854-26C>A MANE Select	ENSP00000304350.6:n.6854-26C>A
ENST00000304992.10:c.6854-26C>A	ENSP00000304350.6:n.6854-26C>A
ENST00000571958.1:c.162+126C>A
ENST00000572621.5:c.6854-26C>A	ENSP00000460348.1:n.6854-26C>A
ENST00000572723.1:n.843-26C>A
NM_006445.3:c.6854-26C>A	NP_006436.3:n.6854-26C>A
XM_024450537.1:c.6854-26C>A	XP_024306305.1:n.6854-26C>A
NM_006445.4:c.6854-26C>A MANE Select	NP_006436.3:n.6854-26C>A