Canonical Allele Identifier: CA397561721

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1918132
• ClinVar RCV Id: RCV002601809
• MyVariant Identifiers: chr17:g.1554110C>A (hg19) ; chr17:g.1650816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650816C>A , CM000679.2:g.1650816C>A	GRCh38
NC_000017.10:g.1554110C>A , CM000679.1:g.1554110C>A	GRCh37
NC_000017.9:g.1500860C>A	NCBI36
NG_009118.1:g.39067G>T
NG_033061.1:g.4283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6814G>T	ENSP00000460849.2:p.Asp2272Tyr
ENST00000703537.1:c.2742G>T
ENST00000703538.1:c.*6717G>T	ENSP00000515361.1:n.*6717G>T
ENST00000703539.1:n.3308G>T
ENST00000703540.1:c.6847G>T	ENSP00000515362.1:p.Asp2283Tyr
ENST00000703541.1:c.6859G>T	ENSP00000515363.1:p.Asp2287Tyr
ENST00000304992.11:c.6994G>T MANE Select	ENSP00000304350.6:p.Asp2332Tyr
ENST00000304992.10:c.6994G>T	ENSP00000304350.6:p.Asp2332Tyr
ENST00000571958.1:c.193G>T
ENST00000572621.5:c.6994G>T	ENSP00000460348.1:p.Asp2332Tyr
NM_006445.3:c.6994G>T	NP_006436.3:p.Asp2332Tyr
XM_024450537.1:c.6994G>T	XP_024306305.1:p.Asp2332Tyr
NM_006445.4:c.6994G>T MANE Select	NP_006436.3:p.Asp2332Tyr