Canonical Allele Identifier: CA8271014

Gene: PRPF8

Linked Data

• dbSNP Id: rs745404608
• ExAC: 17:1554051 T / C
• gnomAD v2: 17-1554051-T-C
• gnomAD v4: 17-1650757-T-C
• MyVariant Identifiers: chr17:g.1554051T>C (hg19) ; chr17:g.1650757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650757T>C , CM000679.2:g.1650757T>C	GRCh38
NC_000017.10:g.1554051T>C , CM000679.1:g.1554051T>C	GRCh37
NC_000017.9:g.1500801T>C	NCBI36
NG_009118.1:g.39126A>G
NG_033061.1:g.4342A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.*45A>G	ENSP00000460849.2:n.*45A>G
ENST00000703537.1:c.2801A>G
ENST00000703538.1:c.*6776A>G	ENSP00000515361.1:n.*6776A>G
ENST00000703539.1:n.3367A>G
ENST00000703540.1:c.*45A>G	ENSP00000515362.1:n.*45A>G
ENST00000304992.11:c.*45A>G MANE Select	ENSP00000304350.6:n.*45A>G
ENST00000304992.10:c.*45A>G	ENSP00000304350.6:n.*45A>G
ENST00000571958.1:c.252A>G
ENST00000572621.5:c.*45A>G	ENSP00000460348.1:n.*45A>G
NM_006445.3:c.*45A>G	NP_006436.3:n.*45A>G
XM_024450537.1:c.*45A>G	XP_024306305.1:n.*45A>G
NM_006445.4:c.*45A>G MANE Select	NP_006436.3:n.*45A>G