Canonical Allele Identifier: CA8272586

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1681836A>G , CM000679.2:g.1681836A>G	GRCh38
NC_000017.10:g.1585130A>G , CM000679.1:g.1585130A>G	GRCh37
NC_000017.9:g.1531880A>G	NCBI36
NG_009118.1:g.8047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.637T>C	ENSP00000460849.2:p.Leu213=
ENST00000703538.1:c.*360T>C	ENSP00000515361.1:n.*360T>C
ENST00000703540.1:c.637T>C	ENSP00000515362.1:p.Leu213=
ENST00000703541.1:c.637T>C	ENSP00000515363.1:p.Leu213=
ENST00000703542.1:n.437T>C
ENST00000304992.11:c.637T>C MANE Select	ENSP00000304350.6:p.Leu213=
ENST00000304992.10:c.637T>C	ENSP00000304350.6:p.Leu213=
ENST00000572621.5:c.637T>C	ENSP00000460348.1:p.Leu213=
ENST00000577001.1:c.472T>C	ENSP00000458151.1:p.Leu158=
NM_006445.3:c.637T>C	NP_006436.3:p.Leu213=
XM_024450537.1:c.637T>C	XP_024306305.1:p.Leu213=
NM_006445.4:c.637T>C MANE Select	NP_006436.3:p.Leu213=