Canonical Allele Identifier: CA8270988

Gene: PRPF8

Linked Data

• dbSNP Id: rs769369598
• ExAC: 17:1553966 C / G
• gnomAD v2: 17-1553966-C-G
• gnomAD v4: 17-1650672-C-G
• MyVariant Identifiers: chr17:g.1553966C>G (hg19) ; chr17:g.1650672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650672C>G , CM000679.2:g.1650672C>G	GRCh38
NC_000017.10:g.1553966C>G , CM000679.1:g.1553966C>G	GRCh37
NC_000017.9:g.1500716C>G	NCBI36
NG_009118.1:g.39211G>C
NG_033061.1:g.4427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*130G>C	ENSP00000460849.2:n.*130G>C
ENST00000703537.1:c.2886G>C
ENST00000703538.1:c.*6861G>C	ENSP00000515361.1:n.*6861G>C
ENST00000703539.1:n.3452G>C
ENST00000703540.1:c.*130G>C	ENSP00000515362.1:n.*130G>C
ENST00000304992.11:c.*130G>C MANE Select	ENSP00000304350.6:n.*130G>C
ENST00000304992.10:c.*130G>C	ENSP00000304350.6:n.*130G>C
ENST00000571958.1:c.337G>C
ENST00000572621.5:c.*130G>C	ENSP00000460348.1:n.*130G>C
NM_006445.3:c.*130G>C	NP_006436.3:n.*130G>C
XM_024450537.1:c.*130G>C	XP_024306305.1:n.*130G>C
NM_006445.4:c.*130G>C MANE Select	NP_006436.3:n.*130G>C