Canonical Allele Identifier: CA8272355

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1679278T>C , CM000679.2:g.1679278T>C	GRCh38
NC_000017.10:g.1582572T>C , CM000679.1:g.1582572T>C	GRCh37
NC_000017.9:g.1529322T>C	NCBI36
NG_009118.1:g.10605A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.1409+13A>G MANE Select	NP_006436.3:n.1409+13A>G
ENST00000304992.11:c.1409+13A>G MANE Select	ENSP00000304350.6:n.1409+13A>G
NM_006445.3:c.1409+13A>G	NP_006436.3:n.1409+13A>G
ENST00000304992.10:c.1409+13A>G	ENSP00000304350.6:n.1409+13A>G
ENST00000572621.5:c.1409+13A>G	ENSP00000460348.1:n.1409+13A>G
ENST00000573716.1:n.20+13A>G
ENST00000573725.2:c.1409+13A>G	ENSP00000460849.2:n.1409+13A>G
ENST00000577001.1:c.1244+13A>G	ENSP00000458151.1:n.1244+13A>G
ENST00000703538.1:c.*1132+13A>G	ENSP00000515361.1:n.*1132+13A>G
ENST00000703540.1:c.1409+13A>G	ENSP00000515362.1:n.1409+13A>G
ENST00000703541.1:c.1409+13A>G	ENSP00000515363.1:n.1409+13A>G
ENST00000703542.1:n.1209+13A>G
XM_024450537.1:c.1409+13A>G	XP_024306305.1:n.1409+13A>G