Canonical Allele Identifier: CA397561923

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650863-T-A
• MyVariant Identifiers: chr17:g.1554157T>A (hg19) ; chr17:g.1650863T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650863T>A , CM000679.2:g.1650863T>A	GRCh38
NC_000017.10:g.1554157T>A , CM000679.1:g.1554157T>A	GRCh37
NC_000017.9:g.1500907T>A	NCBI36
NG_009118.1:g.39020A>T
NG_033061.1:g.4236A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6767A>T	ENSP00000460849.2:p.Asn2256Ile
ENST00000703537.1:c.2695A>T
ENST00000703538.1:c.*6670A>T	ENSP00000515361.1:n.*6670A>T
ENST00000703539.1:n.3261A>T
ENST00000703540.1:c.6800A>T	ENSP00000515362.1:p.Asn2267Ile
ENST00000703541.1:c.6812A>T	ENSP00000515363.1:p.Asn2271Ile
ENST00000304992.11:c.6947A>T MANE Select	ENSP00000304350.6:p.Asn2316Ile
ENST00000304992.10:c.6947A>T	ENSP00000304350.6:p.Asn2316Ile
ENST00000571958.1:c.163-17A>T
ENST00000572621.5:c.6947A>T	ENSP00000460348.1:p.Asn2316Ile
ENST00000572723.1:n.936A>T
NM_006445.3:c.6947A>T	NP_006436.3:p.Asn2316Ile
XM_024450537.1:c.6947A>T	XP_024306305.1:p.Asn2316Ile
NM_006445.4:c.6947A>T MANE Select	NP_006436.3:p.Asn2316Ile