Canonical Allele Identifier: CA397561853

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650849-G-C
• MyVariant Identifiers: chr17:g.1554143G>C (hg19) ; chr17:g.1650849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650849G>C , CM000679.2:g.1650849G>C	GRCh38
NC_000017.10:g.1554143G>C , CM000679.1:g.1554143G>C	GRCh37
NC_000017.9:g.1500893G>C	NCBI36
NG_009118.1:g.39034C>G
NG_033061.1:g.4250C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6781C>G	ENSP00000460849.2:p.Gln2261Glu
ENST00000703537.1:c.2709C>G
ENST00000703538.1:c.*6684C>G	ENSP00000515361.1:n.*6684C>G
ENST00000703539.1:n.3275C>G
ENST00000703540.1:c.6814C>G	ENSP00000515362.1:p.Gln2272Glu
ENST00000703541.1:c.6826C>G	ENSP00000515363.1:p.Gln2276Glu
ENST00000304992.11:c.6961C>G MANE Select	ENSP00000304350.6:p.Gln2321Glu
ENST00000304992.10:c.6961C>G	ENSP00000304350.6:p.Gln2321Glu
ENST00000571958.1:c.163-3C>G
ENST00000572621.5:c.6961C>G	ENSP00000460348.1:p.Gln2321Glu
ENST00000572723.1:n.950C>G
NM_006445.3:c.6961C>G	NP_006436.3:p.Gln2321Glu
XM_024450537.1:c.6961C>G	XP_024306305.1:p.Gln2321Glu
NM_006445.4:c.6961C>G MANE Select	NP_006436.3:p.Gln2321Glu