Canonical Allele Identifier: CA8271961

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1674660T>A , CM000679.2:g.1674660T>A	GRCh38
NC_000017.10:g.1577954T>A , CM000679.1:g.1577954T>A	GRCh37
NC_000017.9:g.1524704T>A	NCBI36
NG_009118.1:g.15223A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.3081A>T MANE Select	NP_006436.3:p.Ser1027=
ENST00000304992.11:c.3081A>T MANE Select	ENSP00000304350.6:p.Ser1027=
NM_006445.3:c.3081A>T	NP_006436.3:p.Ser1027=
ENST00000304992.10:c.3081A>T	ENSP00000304350.6:p.Ser1027=
ENST00000572621.5:c.3081A>T	ENSP00000460348.1:p.Ser1027=
ENST00000573725.2:c.3081A>T	ENSP00000460849.2:p.Ser1027=
ENST00000576958.1:n.400A>T
ENST00000577001.1:c.2916A>T	ENSP00000458151.1:p.Ser972=
ENST00000703538.1:c.*2804A>T	ENSP00000515361.1:n.*2804A>T
ENST00000703540.1:c.3081A>T	ENSP00000515362.1:p.Ser1027=
ENST00000703541.1:c.2946A>T	ENSP00000515363.1:p.Ser982=
XM_024450537.1:c.3081A>T	XP_024306305.1:p.Ser1027=