Canonical Allele Identifier: CA8271148

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651476A>G , CM000679.2:g.1651476A>G	GRCh38
NC_000017.10:g.1554770A>G , CM000679.1:g.1554770A>G	GRCh37
NC_000017.9:g.1501520A>G	NCBI36
NG_009118.1:g.38407T>C
NG_033061.1:g.3623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6408T>C	ENSP00000460849.2:p.His2136=
ENST00000703537.1:c.2336T>C
ENST00000703538.1:c.*6311T>C	ENSP00000515361.1:n.*6311T>C
ENST00000703539.1:n.2902T>C
ENST00000703540.1:c.6441T>C	ENSP00000515362.1:p.His2147=
ENST00000703541.1:c.6453T>C	ENSP00000515363.1:p.His2151=
ENST00000304992.11:c.6588T>C MANE Select	ENSP00000304350.6:p.His2196=
ENST00000304992.10:c.6588T>C	ENSP00000304350.6:p.His2196=
ENST00000572621.5:c.6588T>C	ENSP00000460348.1:p.His2196=
ENST00000572723.1:n.577T>C
NM_006445.3:c.6588T>C	NP_006436.3:p.His2196=
XM_024450537.1:c.6588T>C	XP_024306305.1:p.His2196=
NM_006445.4:c.6588T>C MANE Select	NP_006436.3:p.His2196=