Canonical Allele Identifier: CA497291414

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554116G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650822G>T , CM000679.2:g.1650822G>T	GRCh38
NC_000017.10:g.1554116G>T , CM000679.1:g.1554116G>T	GRCh37
NC_000017.9:g.1500866G>T	NCBI36
NG_009118.1:g.39061C>A
NG_033061.1:g.4277C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6808C>A	ENSP00000460849.2:p.Arg2270=
ENST00000703537.1:c.2736C>A
ENST00000703538.1:c.*6711C>A	ENSP00000515361.1:n.*6711C>A
ENST00000703539.1:n.3302C>A
ENST00000703540.1:c.6841C>A	ENSP00000515362.1:p.Arg2281=
ENST00000703541.1:c.6853C>A	ENSP00000515363.1:p.Arg2285=
ENST00000304992.11:c.6988C>A MANE Select	ENSP00000304350.6:p.Arg2330=
ENST00000304992.10:c.6988C>A	ENSP00000304350.6:p.Arg2330=
ENST00000571958.1:c.187C>A
ENST00000572621.5:c.6988C>A	ENSP00000460348.1:p.Arg2330=
NM_006445.3:c.6988C>A	NP_006436.3:p.Arg2330=
XM_024450537.1:c.6988C>A	XP_024306305.1:p.Arg2330=
NM_006445.4:c.6988C>A MANE Select	NP_006436.3:p.Arg2330=