Canonical Allele Identifier: CA497388872

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651151-G-A
• MyVariant Identifiers: chr17:g.1554445G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651151G>A , CM000679.2:g.1651151G>A	GRCh38
NC_000017.10:g.1554445G>A , CM000679.1:g.1554445G>A	GRCh37
NC_000017.9:g.1501195G>A	NCBI36
NG_009118.1:g.38732C>T
NG_033061.1:g.3948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6630C>T	ENSP00000460849.2:p.Phe2210=
ENST00000703537.1:c.2558C>T
ENST00000703538.1:c.*6533C>T	ENSP00000515361.1:n.*6533C>T
ENST00000703539.1:n.3124C>T
ENST00000703540.1:c.6663C>T	ENSP00000515362.1:p.Phe2221=
ENST00000703541.1:c.6675C>T	ENSP00000515363.1:p.Phe2225=
ENST00000304992.11:c.6810C>T MANE Select	ENSP00000304350.6:p.Phe2270=
ENST00000304992.10:c.6810C>T	ENSP00000304350.6:p.Phe2270=
ENST00000571958.1:c.119C>T
ENST00000572621.5:c.6810C>T	ENSP00000460348.1:p.Phe2270=
ENST00000572723.1:n.799C>T
NM_006445.3:c.6810C>T	NP_006436.3:p.Phe2270=
XM_024450537.1:c.6810C>T	XP_024306305.1:p.Phe2270=
NM_006445.4:c.6810C>T MANE Select	NP_006436.3:p.Phe2270=