Canonical Allele Identifier: CA2242977562

Gene: PRPF8

Linked Data

• dbSNP Id: rs1374611930
• gnomAD v4: 17-1651025-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651025C>A , CM000679.2:g.1651025C>A	GRCh38
NC_000017.10:g.1554319C>A , CM000679.1:g.1554319C>A	GRCh37
NC_000017.9:g.1501069C>A	NCBI36
NG_009118.1:g.38858G>T
NG_033061.1:g.4074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-69G>T	ENSP00000460849.2:n.6674-69G>T
ENST00000703537.1:c.2602-69G>T
ENST00000703538.1:c.*6577-69G>T	ENSP00000515361.1:n.*6577-69G>T
ENST00000703539.1:n.3168-69G>T
ENST00000703540.1:c.6707-69G>T	ENSP00000515362.1:n.6707-69G>T
ENST00000703541.1:c.6719-69G>T	ENSP00000515363.1:n.6719-69G>T
ENST00000304992.11:c.6854-69G>T MANE Select	ENSP00000304350.6:n.6854-69G>T
ENST00000304992.10:c.6854-69G>T	ENSP00000304350.6:n.6854-69G>T
ENST00000571958.1:c.162+83G>T
ENST00000572621.5:c.6854-69G>T	ENSP00000460348.1:n.6854-69G>T
ENST00000572723.1:n.843-69G>T
NM_006445.3:c.6854-69G>T	NP_006436.3:n.6854-69G>T
XM_024450537.1:c.6854-69G>T	XP_024306305.1:n.6854-69G>T
NM_006445.4:c.6854-69G>T MANE Select	NP_006436.3:n.6854-69G>T