Canonical Allele Identifier: CA397561900

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554152C>T (hg19) ; chr17:g.1650858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650858C>T , CM000679.2:g.1650858C>T	GRCh38
NC_000017.10:g.1554152C>T , CM000679.1:g.1554152C>T	GRCh37
NC_000017.9:g.1500902C>T	NCBI36
NG_009118.1:g.39025G>A
NG_033061.1:g.4241G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6772G>A	ENSP00000460849.2:p.Ala2258Thr
ENST00000703537.1:c.2700G>A
ENST00000703538.1:c.*6675G>A	ENSP00000515361.1:n.*6675G>A
ENST00000703539.1:n.3266G>A
ENST00000703540.1:c.6805G>A	ENSP00000515362.1:p.Ala2269Thr
ENST00000703541.1:c.6817G>A	ENSP00000515363.1:p.Ala2273Thr
ENST00000304992.11:c.6952G>A MANE Select	ENSP00000304350.6:p.Ala2318Thr
ENST00000304992.10:c.6952G>A	ENSP00000304350.6:p.Ala2318Thr
ENST00000571958.1:c.163-12G>A
ENST00000572621.5:c.6952G>A	ENSP00000460348.1:p.Ala2318Thr
ENST00000572723.1:n.941G>A
NM_006445.3:c.6952G>A	NP_006436.3:p.Ala2318Thr
XM_024450537.1:c.6952G>A	XP_024306305.1:p.Ala2318Thr
NM_006445.4:c.6952G>A MANE Select	NP_006436.3:p.Ala2318Thr