Canonical Allele Identifier: CA8270983

Gene: PRPF8

Linked Data

• dbSNP Id: rs779552270
• ExAC: 17:1553952 T / G
• gnomAD v2: 17-1553952-T-G
• gnomAD v4: 17-1650658-T-G
• MyVariant Identifiers: chr17:g.1553952T>G (hg19) ; chr17:g.1650658T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650658T>G , CM000679.2:g.1650658T>G	GRCh38
NC_000017.10:g.1553952T>G , CM000679.1:g.1553952T>G	GRCh37
NC_000017.9:g.1500702T>G	NCBI36
NG_009118.1:g.39225A>C
NG_033061.1:g.4441A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*144A>C	ENSP00000460849.2:n.*144A>C
ENST00000703537.1:c.2900A>C
ENST00000304992.11:c.*144A>C MANE Select	ENSP00000304350.6:n.*144A>C
ENST00000304992.10:c.*144A>C	ENSP00000304350.6:n.*144A>C
ENST00000571958.1:c.351A>C
ENST00000572621.5:c.*144A>C	ENSP00000460348.1:n.*144A>C
NM_006445.3:c.*144A>C	NP_006436.3:n.*144A>C
XM_024450537.1:c.*144A>C	XP_024306305.1:n.*144A>C
NM_006445.4:c.*144A>C MANE Select	NP_006436.3:n.*144A>C