Canonical Allele Identifier: CA397564156

Gene: PRPF8

Linked Data

• dbSNP Id: rs1439200266
• gnomAD v2: 17-1554576-C-T
• MyVariant Identifiers: chr17:g.1554576C>T (hg19) ; chr17:g.1651282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651282C>T , CM000679.2:g.1651282C>T	GRCh38
NC_000017.10:g.1554576C>T , CM000679.1:g.1554576C>T	GRCh37
NC_000017.9:g.1501326C>T	NCBI36
NG_009118.1:g.38601G>A
NG_033061.1:g.3817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6499G>A	ENSP00000460849.2:p.Ala2167Thr
ENST00000703537.1:c.2427G>A
ENST00000703538.1:c.*6402G>A	ENSP00000515361.1:n.*6402G>A
ENST00000703539.1:n.2993G>A
ENST00000703540.1:c.6532G>A	ENSP00000515362.1:p.Ala2178Thr
ENST00000703541.1:c.6544G>A	ENSP00000515363.1:p.Ala2182Thr
ENST00000304992.11:c.6679G>A MANE Select	ENSP00000304350.6:p.Ala2227Thr
ENST00000304992.10:c.6679G>A	ENSP00000304350.6:p.Ala2227Thr
ENST00000572621.5:c.6679G>A	ENSP00000460348.1:p.Ala2227Thr
ENST00000572723.1:n.668G>A
NM_006445.3:c.6679G>A	NP_006436.3:p.Ala2227Thr
XM_024450537.1:c.6679G>A	XP_024306305.1:p.Ala2227Thr
NM_006445.4:c.6679G>A MANE Select	NP_006436.3:p.Ala2227Thr