Canonical Allele Identifier: CA397576363

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1661024T>C , CM000679.2:g.1661024T>C	GRCh38
NC_000017.10:g.1564318T>C , CM000679.1:g.1564318T>C	GRCh37
NC_000017.9:g.1511068T>C	NCBI36
NG_009118.1:g.28859A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.4477A>G MANE Select	NP_006436.3:p.Thr1493Ala
ENST00000304992.11:c.4477A>G MANE Select	ENSP00000304350.6:p.Thr1493Ala
NM_006445.3:c.4477A>G	NP_006436.3:p.Thr1493Ala
ENST00000304992.10:c.4477A>G	ENSP00000304350.6:p.Thr1493Ala
ENST00000572445.1:n.551A>G
ENST00000572621.5:c.4477A>G	ENSP00000460348.1:p.Thr1493Ala
ENST00000573681.1:n.198A>G
ENST00000573725.1:c.408A>G
ENST00000573725.2:c.4297A>G	ENSP00000460849.2:p.Thr1433Ala
ENST00000703537.1:c.288A>G
ENST00000703538.1:c.*4200A>G	ENSP00000515361.1:n.*4200A>G
ENST00000703539.1:n.791A>G
ENST00000703540.1:c.4330A>G	ENSP00000515362.1:p.Thr1444Ala
ENST00000703541.1:c.4342A>G	ENSP00000515363.1:p.Thr1448Ala
XM_024450537.1:c.4477A>G	XP_024306305.1:p.Thr1493Ala