Canonical Allele Identifier: CA8271055

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1106767
• ClinVar RCV Id: RCV001431621
• dbSNP Id: rs769542507
• ExAC: 17:1554219 C / T
• gnomAD v2: 17-1554219-C-T
• gnomAD v4: 17-1650925-C-T
• MyVariant Identifiers: chr17:g.1554219C>T (hg19) ; chr17:g.1650925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650925C>T , CM000679.2:g.1650925C>T	GRCh38
NC_000017.10:g.1554219C>T , CM000679.1:g.1554219C>T	GRCh37
NC_000017.9:g.1500969C>T	NCBI36
NG_009118.1:g.38958G>A
NG_033061.1:g.4174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6705G>A	ENSP00000460849.2:p.Glu2235=
ENST00000703537.1:c.2633G>A
ENST00000703538.1:c.*6608G>A	ENSP00000515361.1:n.*6608G>A
ENST00000703539.1:n.3199G>A
ENST00000703540.1:c.6738G>A	ENSP00000515362.1:p.Glu2246=
ENST00000703541.1:c.6750G>A	ENSP00000515363.1:p.Glu2250=
ENST00000304992.11:c.6885G>A MANE Select	ENSP00000304350.6:p.Glu2295=
ENST00000304992.10:c.6885G>A	ENSP00000304350.6:p.Glu2295=
ENST00000571958.1:c.163-79G>A
ENST00000572621.5:c.6885G>A	ENSP00000460348.1:p.Glu2295=
ENST00000572723.1:n.874G>A
NM_006445.3:c.6885G>A	NP_006436.3:p.Glu2295=
XM_024450537.1:c.6885G>A	XP_024306305.1:p.Glu2295=
NM_006445.4:c.6885G>A MANE Select	NP_006436.3:p.Glu2295=