Canonical Allele Identifier: CA8270986

Gene: PRPF8

Linked Data

• dbSNP Id: rs780517164
• ExAC: 17:1553961 G / C
• gnomAD v2: 17-1553961-G-C
• MyVariant Identifiers: chr17:g.1553961G>C (hg19) ; chr17:g.1650667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650667G>C , CM000679.2:g.1650667G>C	GRCh38
NC_000017.10:g.1553961G>C , CM000679.1:g.1553961G>C	GRCh37
NC_000017.9:g.1500711G>C	NCBI36
NG_009118.1:g.39216C>G
NG_033061.1:g.4432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*135C>G	ENSP00000460849.2:n.*135C>G
ENST00000703537.1:c.2891C>G
ENST00000703538.1:c.*6866C>G	ENSP00000515361.1:n.*6866C>G
ENST00000703539.1:n.3457C>G
ENST00000703540.1:c.*135C>G	ENSP00000515362.1:n.*135C>G
ENST00000304992.11:c.*135C>G MANE Select	ENSP00000304350.6:n.*135C>G
ENST00000304992.10:c.*135C>G	ENSP00000304350.6:n.*135C>G
ENST00000571958.1:c.342C>G
ENST00000572621.5:c.*135C>G	ENSP00000460348.1:n.*135C>G
NM_006445.3:c.*135C>G	NP_006436.3:n.*135C>G
XM_024450537.1:c.*135C>G	XP_024306305.1:n.*135C>G
NM_006445.4:c.*135C>G MANE Select	NP_006436.3:n.*135C>G