Canonical Allele Identifier: CA497291600

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650877-G-A
• MyVariant Identifiers: chr17:g.1554171G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650877G>A , CM000679.2:g.1650877G>A	GRCh38
NC_000017.10:g.1554171G>A , CM000679.1:g.1554171G>A	GRCh37
NC_000017.9:g.1500921G>A	NCBI36
NG_009118.1:g.39006C>T
NG_033061.1:g.4222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6753C>T	ENSP00000460849.2:p.Pro2251=
ENST00000703537.1:c.2681C>T
ENST00000703538.1:c.*6656C>T	ENSP00000515361.1:n.*6656C>T
ENST00000703539.1:n.3247C>T
ENST00000703540.1:c.6786C>T	ENSP00000515362.1:p.Pro2262=
ENST00000703541.1:c.6798C>T	ENSP00000515363.1:p.Pro2266=
ENST00000304992.11:c.6933C>T MANE Select	ENSP00000304350.6:p.Pro2311=
ENST00000304992.10:c.6933C>T	ENSP00000304350.6:p.Pro2311=
ENST00000571958.1:c.163-31C>T
ENST00000572621.5:c.6933C>T	ENSP00000460348.1:p.Pro2311=
ENST00000572723.1:n.922C>T
NM_006445.3:c.6933C>T	NP_006436.3:p.Pro2311=
XM_024450537.1:c.6933C>T	XP_024306305.1:p.Pro2311=
NM_006445.4:c.6933C>T MANE Select	NP_006436.3:p.Pro2311=