Canonical Allele Identifier: CA397561844

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650847-C-A
• MyVariant Identifiers: chr17:g.1554141C>A (hg19) ; chr17:g.1650847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650847C>A , CM000679.2:g.1650847C>A	GRCh38
NC_000017.10:g.1554141C>A , CM000679.1:g.1554141C>A	GRCh37
NC_000017.9:g.1500891C>A	NCBI36
NG_009118.1:g.39036G>T
NG_033061.1:g.4252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6783G>T	ENSP00000460849.2:p.Gln2261His
ENST00000703537.1:c.2711G>T
ENST00000703538.1:c.*6686G>T	ENSP00000515361.1:n.*6686G>T
ENST00000703539.1:n.3277G>T
ENST00000703540.1:c.6816G>T	ENSP00000515362.1:p.Gln2272His
ENST00000703541.1:c.6828G>T	ENSP00000515363.1:p.Gln2276His
ENST00000304992.11:c.6963G>T MANE Select	ENSP00000304350.6:p.Gln2321His
ENST00000304992.10:c.6963G>T	ENSP00000304350.6:p.Gln2321His
ENST00000571958.1:c.163-1G>T
ENST00000572621.5:c.6963G>T	ENSP00000460348.1:p.Gln2321His
ENST00000572723.1:n.952G>T
NM_006445.3:c.6963G>T	NP_006436.3:p.Gln2321His
XM_024450537.1:c.6963G>T	XP_024306305.1:p.Gln2321His
NM_006445.4:c.6963G>T MANE Select	NP_006436.3:p.Gln2321His