Canonical Allele Identifier: CA397564209

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554603A>C (hg19) ; chr17:g.1651309A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651309A>C , CM000679.2:g.1651309A>C	GRCh38
NC_000017.10:g.1554603A>C , CM000679.1:g.1554603A>C	GRCh37
NC_000017.9:g.1501353A>C	NCBI36
NG_009118.1:g.38574T>G
NG_033061.1:g.3790T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6472T>G	ENSP00000460849.2:p.Phe2158Val
ENST00000703537.1:c.2400T>G
ENST00000703538.1:c.*6375T>G	ENSP00000515361.1:n.*6375T>G
ENST00000703539.1:n.2966T>G
ENST00000703540.1:c.6505T>G	ENSP00000515362.1:p.Phe2169Val
ENST00000703541.1:c.6517T>G	ENSP00000515363.1:p.Phe2173Val
ENST00000304992.11:c.6652T>G MANE Select	ENSP00000304350.6:p.Phe2218Val
ENST00000304992.10:c.6652T>G	ENSP00000304350.6:p.Phe2218Val
ENST00000572621.5:c.6652T>G	ENSP00000460348.1:p.Phe2218Val
ENST00000572723.1:n.641T>G
NM_006445.3:c.6652T>G	NP_006436.3:p.Phe2218Val
XM_024450537.1:c.6652T>G	XP_024306305.1:p.Phe2218Val
NM_006445.4:c.6652T>G MANE Select	NP_006436.3:p.Phe2218Val