Canonical Allele Identifier: CA16620336

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1660484C>T , CM000679.2:g.1660484C>T	GRCh38
NC_000017.10:g.1563778C>T , CM000679.1:g.1563778C>T	GRCh37
NC_000017.9:g.1510528C>T	NCBI36
NG_009118.1:g.29399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.4553G>A	ENSP00000460849.2:p.Arg1518Gln
ENST00000703537.1:c.544G>A
ENST00000703538.1:c.*4456G>A	ENSP00000515361.1:n.*4456G>A
ENST00000703539.1:n.1047G>A
ENST00000703540.1:c.4586G>A	ENSP00000515362.1:p.Arg1529Gln
ENST00000703541.1:c.4598G>A	ENSP00000515363.1:p.Arg1533Gln
ENST00000304992.11:c.4733G>A MANE Select	ENSP00000304350.6:p.Arg1578Gln
ENST00000304992.10:c.4733G>A	ENSP00000304350.6:p.Arg1578Gln
ENST00000572621.5:c.4733G>A	ENSP00000460348.1:p.Arg1578Gln
ENST00000573681.1:n.454G>A
ENST00000573725.1:c.664G>A
NM_006445.3:c.4733G>A	NP_006436.3:p.Arg1578Gln
XM_024450537.1:c.4733G>A	XP_024306305.1:p.Arg1578Gln
NM_006445.4:c.4733G>A MANE Select	NP_006436.3:p.Arg1578Gln