Canonical Allele Identifier: CA8271020

Gene: PRPF8

Linked Data

• dbSNP Id: rs377405986
• ExAC: 17:1554063 C / T
• gnomAD v2: 17-1554063-C-T
• gnomAD v3: 17-1650769-C-T
• gnomAD v4: 17-1650769-C-T
• MyVariant Identifiers: chr17:g.1554063C>T (hg19) ; chr17:g.1650769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650769C>T , CM000679.2:g.1650769C>T	GRCh38
NC_000017.10:g.1554063C>T , CM000679.1:g.1554063C>T	GRCh37
NC_000017.9:g.1500813C>T	NCBI36
NG_009118.1:g.39114G>A
NG_033061.1:g.4330G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.*33G>A	ENSP00000460849.2:n.*33G>A
ENST00000703537.1:c.2789G>A
ENST00000703538.1:c.*6764G>A	ENSP00000515361.1:n.*6764G>A
ENST00000703539.1:n.3355G>A
ENST00000703540.1:c.*33G>A	ENSP00000515362.1:n.*33G>A
ENST00000304992.11:c.*33G>A MANE Select	ENSP00000304350.6:n.*33G>A
ENST00000304992.10:c.*33G>A	ENSP00000304350.6:n.*33G>A
ENST00000571958.1:c.240G>A
ENST00000572621.5:c.*33G>A	ENSP00000460348.1:n.*33G>A
NM_006445.3:c.*33G>A	NP_006436.3:n.*33G>A
XM_024450537.1:c.*33G>A	XP_024306305.1:n.*33G>A
NM_006445.4:c.*33G>A MANE Select	NP_006436.3:n.*33G>A