Canonical Allele Identifier: CA397543182

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1674591C>G , CM000679.2:g.1674591C>G	GRCh38
NC_000017.10:g.1577885C>G , CM000679.1:g.1577885C>G	GRCh37
NC_000017.9:g.1524635C>G	NCBI36
NG_009118.1:g.15292G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.3150G>C MANE Select	NP_006436.3:p.Leu1050Phe
ENST00000304992.11:c.3150G>C MANE Select	ENSP00000304350.6:p.Leu1050Phe
NM_006445.3:c.3150G>C	NP_006436.3:p.Leu1050Phe
ENST00000304992.10:c.3150G>C	ENSP00000304350.6:p.Leu1050Phe
ENST00000572621.5:c.3150G>C	ENSP00000460348.1:p.Leu1050Phe
ENST00000573725.2:c.3150G>C	ENSP00000460849.2:p.Leu1050Phe
ENST00000577001.1:c.2985G>C	ENSP00000458151.1:p.Leu995Phe
ENST00000703538.1:c.*2873G>C	ENSP00000515361.1:n.*2873G>C
ENST00000703540.1:c.3150G>C	ENSP00000515362.1:p.Leu1050Phe
ENST00000703541.1:c.3015G>C	ENSP00000515363.1:p.Leu1005Phe
XM_024450537.1:c.3150G>C	XP_024306305.1:p.Leu1050Phe