Canonical Allele Identifier: CA397564217

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651312-T-C
• MyVariant Identifiers: chr17:g.1554606T>C (hg19) ; chr17:g.1651312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651312T>C , CM000679.2:g.1651312T>C	GRCh38
NC_000017.10:g.1554606T>C , CM000679.1:g.1554606T>C	GRCh37
NC_000017.9:g.1501356T>C	NCBI36
NG_009118.1:g.38571A>G
NG_033061.1:g.3787A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6471-2A>G	ENSP00000460849.2:n.6471-2A>G
ENST00000703537.1:c.2399-2A>G
ENST00000703538.1:c.*6374-2A>G	ENSP00000515361.1:n.*6374-2A>G
ENST00000703539.1:n.2965-2A>G
ENST00000703540.1:c.6504-2A>G	ENSP00000515362.1:n.6504-2A>G
ENST00000703541.1:c.6516-2A>G	ENSP00000515363.1:n.6516-2A>G
ENST00000304992.11:c.6651-2A>G MANE Select	ENSP00000304350.6:n.6651-2A>G
ENST00000304992.10:c.6651-2A>G	ENSP00000304350.6:n.6651-2A>G
ENST00000572621.5:c.6651-2A>G	ENSP00000460348.1:n.6651-2A>G
ENST00000572723.1:n.640-2A>G
NM_006445.3:c.6651-2A>G	NP_006436.3:n.6651-2A>G
XM_024450537.1:c.6651-2A>G	XP_024306305.1:n.6651-2A>G
NM_006445.4:c.6651-2A>G MANE Select	NP_006436.3:n.6651-2A>G