Canonical Allele Identifier: CA397563941

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554507C>A (hg19) ; chr17:g.1651213C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651213C>A , CM000679.2:g.1651213C>A	GRCh38
NC_000017.10:g.1554507C>A , CM000679.1:g.1554507C>A	GRCh37
NC_000017.9:g.1501257C>A	NCBI36
NG_009118.1:g.38670G>T
NG_033061.1:g.3886G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6568G>T	ENSP00000460849.2:p.Gly2190Cys
ENST00000703537.1:c.2496G>T
ENST00000703538.1:c.*6471G>T	ENSP00000515361.1:n.*6471G>T
ENST00000703539.1:n.3062G>T
ENST00000703540.1:c.6601G>T	ENSP00000515362.1:p.Gly2201Cys
ENST00000703541.1:c.6613G>T	ENSP00000515363.1:p.Gly2205Cys
ENST00000304992.11:c.6748G>T MANE Select	ENSP00000304350.6:p.Gly2250Cys
ENST00000304992.10:c.6748G>T	ENSP00000304350.6:p.Gly2250Cys
ENST00000571958.1:c.57G>T
ENST00000572621.5:c.6748G>T	ENSP00000460348.1:p.Gly2250Cys
ENST00000572723.1:n.737G>T
NM_006445.3:c.6748G>T	NP_006436.3:p.Gly2250Cys
XM_024450537.1:c.6748G>T	XP_024306305.1:p.Gly2250Cys
NM_006445.4:c.6748G>T MANE Select	NP_006436.3:p.Gly2250Cys