Canonical Allele Identifier: CA286849170

Gene: PRPF8

Linked Data

• dbSNP Id: rs748781515
• gnomAD v3: 17-1650679-T-G
• gnomAD v4: 17-1650679-T-G
• MyVariant Identifiers: chr17:g.1553973T>G (hg19) ; chr17:g.1650679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650679T>G , CM000679.2:g.1650679T>G	GRCh38
NC_000017.10:g.1553973T>G , CM000679.1:g.1553973T>G	GRCh37
NC_000017.9:g.1500723T>G	NCBI36
NG_009118.1:g.39204A>C
NG_033061.1:g.4420A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*123A>C	ENSP00000460849.2:n.*123A>C
ENST00000703537.1:c.2879A>C
ENST00000703538.1:c.*6854A>C	ENSP00000515361.1:n.*6854A>C
ENST00000703539.1:n.3445A>C
ENST00000703540.1:c.*123A>C	ENSP00000515362.1:n.*123A>C
ENST00000304992.11:c.*123A>C MANE Select	ENSP00000304350.6:n.*123A>C
ENST00000304992.10:c.*123A>C	ENSP00000304350.6:n.*123A>C
ENST00000571958.1:c.330A>C
ENST00000572621.5:c.*123A>C	ENSP00000460348.1:n.*123A>C
NM_006445.3:c.*123A>C	NP_006436.3:n.*123A>C
XM_024450537.1:c.*123A>C	XP_024306305.1:n.*123A>C
NM_006445.4:c.*123A>C MANE Select	NP_006436.3:n.*123A>C