Canonical Allele Identifier: CA397576880

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1661164T>C , CM000679.2:g.1661164T>C	GRCh38
NC_000017.10:g.1564458T>C , CM000679.1:g.1564458T>C	GRCh37
NC_000017.9:g.1511208T>C	NCBI36
NG_009118.1:g.28719A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.4339-2A>G MANE Select	NP_006436.3:n.4339-2A>G
ENST00000304992.11:c.4339-2A>G MANE Select	ENSP00000304350.6:n.4339-2A>G
NM_006445.3:c.4339-2A>G	NP_006436.3:n.4339-2A>G
ENST00000304992.10:c.4339-2A>G	ENSP00000304350.6:n.4339-2A>G
ENST00000572445.1:n.411A>G
ENST00000572621.5:c.4339-2A>G	ENSP00000460348.1:n.4339-2A>G
ENST00000573681.1:n.60-2A>G
ENST00000573725.1:c.270-2A>G
ENST00000573725.2:c.4159-2A>G	ENSP00000460849.2:n.4159-2A>G
ENST00000703537.1:c.150-2A>G
ENST00000703538.1:c.*4062-2A>G	ENSP00000515361.1:n.*4062-2A>G
ENST00000703539.1:n.653-2A>G
ENST00000703540.1:c.4192-2A>G	ENSP00000515362.1:n.4192-2A>G
ENST00000703541.1:c.4204-2A>G	ENSP00000515363.1:n.4204-2A>G
XM_024450537.1:c.4339-2A>G	XP_024306305.1:n.4339-2A>G