Canonical Allele Identifier: CA397561695

Gene: PRPF8

Linked Data

• dbSNP Id: rs1193604660
• gnomAD v2: 17-1554104-A-G
• gnomAD v4: 17-1650810-A-G
• MyVariant Identifiers: chr17:g.1554104A>G (hg19) ; chr17:g.1650810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650810A>G , CM000679.2:g.1650810A>G	GRCh38
NC_000017.10:g.1554104A>G , CM000679.1:g.1554104A>G	GRCh37
NC_000017.9:g.1500854A>G	NCBI36
NG_009118.1:g.39073T>C
NG_033061.1:g.4289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6820T>C	ENSP00000460849.2:p.Tyr2274His
ENST00000703537.1:c.2748T>C
ENST00000703538.1:c.*6723T>C	ENSP00000515361.1:n.*6723T>C
ENST00000703539.1:n.3314T>C
ENST00000703540.1:c.6853T>C	ENSP00000515362.1:p.Tyr2285His
ENST00000703541.1:c.6865T>C	ENSP00000515363.1:p.Tyr2289His
ENST00000304992.11:c.7000T>C MANE Select	ENSP00000304350.6:p.Tyr2334His
ENST00000304992.10:c.7000T>C	ENSP00000304350.6:p.Tyr2334His
ENST00000571958.1:c.199T>C
ENST00000572621.5:c.7000T>C	ENSP00000460348.1:p.Tyr2334His
NM_006445.3:c.7000T>C	NP_006436.3:p.Tyr2334His
XM_024450537.1:c.7000T>C	XP_024306305.1:p.Tyr2334His
NM_006445.4:c.7000T>C MANE Select	NP_006436.3:p.Tyr2334His