Canonical Allele Identifier: CA624564343

Gene: PRPF8

Linked Data

• dbSNP Id: rs1305917200
• gnomAD v2: 17-1554373-C-G
• gnomAD v4: 17-1651079-C-G
• MyVariant Identifiers: chr17:g.1554373C>G (hg19) ; chr17:g.1651079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651079C>G , CM000679.2:g.1651079C>G	GRCh38
NC_000017.10:g.1554373C>G , CM000679.1:g.1554373C>G	GRCh37
NC_000017.9:g.1501123C>G	NCBI36
NG_009118.1:g.38804G>C
NG_033061.1:g.4020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+29G>C	ENSP00000460849.2:n.6673+29G>C
ENST00000703537.1:c.2601+29G>C
ENST00000703538.1:c.*6576+29G>C	ENSP00000515361.1:n.*6576+29G>C
ENST00000703539.1:n.3167+29G>C
ENST00000703540.1:c.6706+29G>C	ENSP00000515362.1:n.6706+29G>C
ENST00000703541.1:c.6718+29G>C	ENSP00000515363.1:n.6718+29G>C
ENST00000304992.11:c.6853+29G>C MANE Select	ENSP00000304350.6:n.6853+29G>C
ENST00000304992.10:c.6853+29G>C	ENSP00000304350.6:n.6853+29G>C
ENST00000571958.1:c.162+29G>C
ENST00000572621.5:c.6853+29G>C	ENSP00000460348.1:n.6853+29G>C
ENST00000572723.1:n.842+29G>C
NM_006445.3:c.6853+29G>C	NP_006436.3:n.6853+29G>C
XM_024450537.1:c.6853+29G>C	XP_024306305.1:n.6853+29G>C
NM_006445.4:c.6853+29G>C MANE Select	NP_006436.3:n.6853+29G>C