Canonical Allele Identifier: CA397576901

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1661269A>G , CM000679.2:g.1661269A>G	GRCh38
NC_000017.10:g.1564563A>G , CM000679.1:g.1564563A>G	GRCh37
NC_000017.9:g.1511313A>G	NCBI36
NG_009118.1:g.28614T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.4338+2T>C MANE Select	NP_006436.3:n.4338+2T>C
ENST00000304992.11:c.4338+2T>C MANE Select	ENSP00000304350.6:n.4338+2T>C
NM_006445.3:c.4338+2T>C	NP_006436.3:n.4338+2T>C
ENST00000304992.10:c.4338+2T>C	ENSP00000304350.6:n.4338+2T>C
ENST00000572445.1:n.306T>C
ENST00000572621.5:c.4338+2T>C	ENSP00000460348.1:n.4338+2T>C
ENST00000573681.1:n.59+2T>C
ENST00000573725.1:c.269+2T>C
ENST00000573725.2:c.4158+2T>C	ENSP00000460849.2:n.4158+2T>C
ENST00000703537.1:c.149+2T>C
ENST00000703538.1:c.*4061+2T>C	ENSP00000515361.1:n.*4061+2T>C
ENST00000703539.1:n.652+2T>C
ENST00000703540.1:c.4191+2T>C	ENSP00000515362.1:n.4191+2T>C
ENST00000703541.1:c.4203+2T>C	ENSP00000515363.1:n.4203+2T>C
XM_024450537.1:c.4338+2T>C	XP_024306305.1:n.4338+2T>C