Canonical Allele Identifier: CA397561709

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 866166
• ClinVar RCV Id: RCV001073964
• dbSNP Id: rs1162009923
• MyVariant Identifiers: chr17:g.1554108G>T (hg19) ; chr17:g.1650814G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650814G>T , CM000679.2:g.1650814G>T	GRCh38
NC_000017.10:g.1554108G>T , CM000679.1:g.1554108G>T	GRCh37
NC_000017.9:g.1500858G>T	NCBI36
NG_009118.1:g.39069C>A
NG_033061.1:g.4285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6816C>A	ENSP00000460849.2:p.Asp2272Glu
ENST00000703537.1:c.2744C>A
ENST00000703538.1:c.*6719C>A	ENSP00000515361.1:n.*6719C>A
ENST00000703539.1:n.3310C>A
ENST00000703540.1:c.6849C>A	ENSP00000515362.1:p.Asp2283Glu
ENST00000703541.1:c.6861C>A	ENSP00000515363.1:p.Asp2287Glu
ENST00000304992.11:c.6996C>A MANE Select	ENSP00000304350.6:p.Asp2332Glu
ENST00000304992.10:c.6996C>A	ENSP00000304350.6:p.Asp2332Glu
ENST00000571958.1:c.195C>A
ENST00000572621.5:c.6996C>A	ENSP00000460348.1:p.Asp2332Glu
NM_006445.3:c.6996C>A	NP_006436.3:p.Asp2332Glu
XM_024450537.1:c.6996C>A	XP_024306305.1:p.Asp2332Glu
NM_006445.4:c.6996C>A MANE Select	NP_006436.3:p.Asp2332Glu