Canonical Allele Identifier: CA397564210

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651309-A-G
• MyVariant Identifiers: chr17:g.1554603A>G (hg19) ; chr17:g.1651309A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6472T>C	ENSP00000460849.2:p.Phe2158Leu
ENST00000703537.1:c.2400T>C
ENST00000703538.1:c.*6375T>C	ENSP00000515361.1:n.*6375T>C
ENST00000703539.1:n.2966T>C
ENST00000703540.1:c.6505T>C	ENSP00000515362.1:p.Phe2169Leu
ENST00000703541.1:c.6517T>C	ENSP00000515363.1:p.Phe2173Leu
ENST00000304992.11:c.6652T>C MANE Select	ENSP00000304350.6:p.Phe2218Leu
ENST00000304992.10:c.6652T>C	ENSP00000304350.6:p.Phe2218Leu
ENST00000572621.5:c.6652T>C	ENSP00000460348.1:p.Phe2218Leu
ENST00000572723.1:n.641T>C
NM_006445.3:c.6652T>C	NP_006436.3:p.Phe2218Leu
XM_024450537.1:c.6652T>C	XP_024306305.1:p.Phe2218Leu
NM_006445.4:c.6652T>C MANE Select	NP_006436.3:p.Phe2218Leu