Canonical Allele Identifier: CA397563613

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651119-T-C
• MyVariant Identifiers: chr17:g.1554413T>C (hg19) ; chr17:g.1651119T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651119T>C , CM000679.2:g.1651119T>C	GRCh38
NC_000017.10:g.1554413T>C , CM000679.1:g.1554413T>C	GRCh37
NC_000017.9:g.1501163T>C	NCBI36
NG_009118.1:g.38764A>G
NG_033061.1:g.3980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6662A>G	ENSP00000460849.2:p.Tyr2221Cys
ENST00000703537.1:c.2590A>G
ENST00000703538.1:c.*6565A>G	ENSP00000515361.1:n.*6565A>G
ENST00000703539.1:n.3156A>G
ENST00000703540.1:c.6695A>G	ENSP00000515362.1:p.Tyr2232Cys
ENST00000703541.1:c.6707A>G	ENSP00000515363.1:p.Tyr2236Cys
ENST00000304992.11:c.6842A>G MANE Select	ENSP00000304350.6:p.Tyr2281Cys
ENST00000304992.10:c.6842A>G	ENSP00000304350.6:p.Tyr2281Cys
ENST00000571958.1:c.151A>G
ENST00000572621.5:c.6842A>G	ENSP00000460348.1:p.Tyr2281Cys
ENST00000572723.1:n.831A>G
NM_006445.3:c.6842A>G	NP_006436.3:p.Tyr2281Cys
XM_024450537.1:c.6842A>G	XP_024306305.1:p.Tyr2281Cys
NM_006445.4:c.6842A>G MANE Select	NP_006436.3:p.Tyr2281Cys