Canonical Allele Identifier: CA286849721

Gene: PRPF8

Linked Data

• dbSNP Id: rs922967970
• gnomAD v4: 17-1650949-C-T
• MyVariant Identifiers: chr17:g.1554243C>T (hg19) ; chr17:g.1650949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650949C>T , CM000679.2:g.1650949C>T	GRCh38
NC_000017.10:g.1554243C>T , CM000679.1:g.1554243C>T	GRCh37
NC_000017.9:g.1500993C>T	NCBI36
NG_009118.1:g.38934G>A
NG_033061.1:g.4150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6681G>A	ENSP00000460849.2:p.Arg2227=
ENST00000703537.1:c.2609G>A
ENST00000703538.1:c.*6584G>A	ENSP00000515361.1:n.*6584G>A
ENST00000703539.1:n.3175G>A
ENST00000703540.1:c.6714G>A	ENSP00000515362.1:p.Arg2238=
ENST00000703541.1:c.6726G>A	ENSP00000515363.1:p.Arg2242=
ENST00000304992.11:c.6861G>A MANE Select	ENSP00000304350.6:p.Arg2287=
ENST00000304992.10:c.6861G>A	ENSP00000304350.6:p.Arg2287=
ENST00000571958.1:c.163-103G>A
ENST00000572621.5:c.6861G>A	ENSP00000460348.1:p.Arg2287=
ENST00000572723.1:n.850G>A
NM_006445.3:c.6861G>A	NP_006436.3:p.Arg2287=
XM_024450537.1:c.6861G>A	XP_024306305.1:p.Arg2287=
NM_006445.4:c.6861G>A MANE Select	NP_006436.3:p.Arg2287=