Canonical Allele Identifier: CA397539171

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1673400T>G , CM000679.2:g.1673400T>G	GRCh38
NC_000017.10:g.1576694T>G , CM000679.1:g.1576694T>G	GRCh37
NC_000017.9:g.1523444T>G	NCBI36
NG_009118.1:g.16483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.3614A>C	ENSP00000460849.2:p.Glu1205Ala
ENST00000703538.1:c.*3337A>C	ENSP00000515361.1:n.*3337A>C
ENST00000703540.1:c.3467A>C	ENSP00000515362.1:p.Glu1156Ala
ENST00000703541.1:c.3479A>C	ENSP00000515363.1:p.Glu1160Ala
ENST00000304992.11:c.3614A>C MANE Select	ENSP00000304350.6:p.Glu1205Ala
ENST00000304992.10:c.3614A>C	ENSP00000304350.6:p.Glu1205Ala
ENST00000572621.5:c.3614A>C	ENSP00000460348.1:p.Glu1205Ala
ENST00000574217.1:n.10A>C
NM_006445.3:c.3614A>C	NP_006436.3:p.Glu1205Ala
XM_024450537.1:c.3614A>C	XP_024306305.1:p.Glu1205Ala
NM_006445.4:c.3614A>C MANE Select	NP_006436.3:p.Glu1205Ala