Canonical Allele Identifier: CA8271050

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1498152
• ClinVar RCV Id: RCV001996434
• dbSNP Id: rs779481846
• ExAC: 17:1554196 T / C
• gnomAD v2: 17-1554196-T-C
• gnomAD v4: 17-1650902-T-C
• MyVariant Identifiers: chr17:g.1554196T>C (hg19) ; chr17:g.1650902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650902T>C , CM000679.2:g.1650902T>C	GRCh38
NC_000017.10:g.1554196T>C , CM000679.1:g.1554196T>C	GRCh37
NC_000017.9:g.1500946T>C	NCBI36
NG_009118.1:g.38981A>G
NG_033061.1:g.4197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6728A>G	ENSP00000460849.2:p.Glu2243Gly
ENST00000703537.1:c.2656A>G
ENST00000703538.1:c.*6631A>G	ENSP00000515361.1:n.*6631A>G
ENST00000703539.1:n.3222A>G
ENST00000703540.1:c.6761A>G	ENSP00000515362.1:p.Glu2254Gly
ENST00000703541.1:c.6773A>G	ENSP00000515363.1:p.Glu2258Gly
ENST00000304992.11:c.6908A>G MANE Select	ENSP00000304350.6:p.Glu2303Gly
ENST00000304992.10:c.6908A>G	ENSP00000304350.6:p.Glu2303Gly
ENST00000571958.1:c.163-56A>G
ENST00000572621.5:c.6908A>G	ENSP00000460348.1:p.Glu2303Gly
ENST00000572723.1:n.897A>G
NM_006445.3:c.6908A>G	NP_006436.3:p.Glu2303Gly
XM_024450537.1:c.6908A>G	XP_024306305.1:p.Glu2303Gly
NM_006445.4:c.6908A>G MANE Select	NP_006436.3:p.Glu2303Gly