Canonical Allele Identifier: CA397561745

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650822-G-C
• MyVariant Identifiers: chr17:g.1554116G>C (hg19) ; chr17:g.1650822G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650822G>C , CM000679.2:g.1650822G>C	GRCh38
NC_000017.10:g.1554116G>C , CM000679.1:g.1554116G>C	GRCh37
NC_000017.9:g.1500866G>C	NCBI36
NG_009118.1:g.39061C>G
NG_033061.1:g.4277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6808C>G	ENSP00000460849.2:p.Arg2270Gly
ENST00000703537.1:c.2736C>G
ENST00000703538.1:c.*6711C>G	ENSP00000515361.1:n.*6711C>G
ENST00000703539.1:n.3302C>G
ENST00000703540.1:c.6841C>G	ENSP00000515362.1:p.Arg2281Gly
ENST00000703541.1:c.6853C>G	ENSP00000515363.1:p.Arg2285Gly
ENST00000304992.11:c.6988C>G MANE Select	ENSP00000304350.6:p.Arg2330Gly
ENST00000304992.10:c.6988C>G	ENSP00000304350.6:p.Arg2330Gly
ENST00000571958.1:c.187C>G
ENST00000572621.5:c.6988C>G	ENSP00000460348.1:p.Arg2330Gly
NM_006445.3:c.6988C>G	NP_006436.3:p.Arg2330Gly
XM_024450537.1:c.6988C>G	XP_024306305.1:p.Arg2330Gly
NM_006445.4:c.6988C>G MANE Select	NP_006436.3:p.Arg2330Gly