Canonical Allele Identifier: CA397561800

Gene: PRPF8

Linked Data

• dbSNP Id: rs1373036742
• gnomAD v2: 17-1554131-C-T
• gnomAD v4: 17-1650837-C-T
• MyVariant Identifiers: chr17:g.1554131C>T (hg19) ; chr17:g.1650837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650837C>T , CM000679.2:g.1650837C>T	GRCh38
NC_000017.10:g.1554131C>T , CM000679.1:g.1554131C>T	GRCh37
NC_000017.9:g.1500881C>T	NCBI36
NG_009118.1:g.39046G>A
NG_033061.1:g.4262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6793G>A	ENSP00000460849.2:p.Val2265Ile
ENST00000703537.1:c.2721G>A
ENST00000703538.1:c.*6696G>A	ENSP00000515361.1:n.*6696G>A
ENST00000703539.1:n.3287G>A
ENST00000703540.1:c.6826G>A	ENSP00000515362.1:p.Val2276Ile
ENST00000703541.1:c.6838G>A	ENSP00000515363.1:p.Val2280Ile
ENST00000304992.11:c.6973G>A MANE Select	ENSP00000304350.6:p.Val2325Ile
ENST00000304992.10:c.6973G>A	ENSP00000304350.6:p.Val2325Ile
ENST00000571958.1:c.172G>A
ENST00000572621.5:c.6973G>A	ENSP00000460348.1:p.Val2325Ile
NM_006445.3:c.6973G>A	NP_006436.3:p.Val2325Ile
XM_024450537.1:c.6973G>A	XP_024306305.1:p.Val2325Ile
NM_006445.4:c.6973G>A MANE Select	NP_006436.3:p.Val2325Ile