Canonical Allele Identifier: CA497291379

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554105C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650811C>A , CM000679.2:g.1650811C>A	GRCh38
NC_000017.10:g.1554105C>A , CM000679.1:g.1554105C>A	GRCh37
NC_000017.9:g.1500855C>A	NCBI36
NG_009118.1:g.39072G>T
NG_033061.1:g.4288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6819G>T	ENSP00000460849.2:p.Leu2273=
ENST00000703537.1:c.2747G>T
ENST00000703538.1:c.*6722G>T	ENSP00000515361.1:n.*6722G>T
ENST00000703539.1:n.3313G>T
ENST00000703540.1:c.6852G>T	ENSP00000515362.1:p.Leu2284=
ENST00000703541.1:c.6864G>T	ENSP00000515363.1:p.Leu2288=
ENST00000304992.11:c.6999G>T MANE Select	ENSP00000304350.6:p.Leu2333=
ENST00000304992.10:c.6999G>T	ENSP00000304350.6:p.Leu2333=
ENST00000571958.1:c.198G>T
ENST00000572621.5:c.6999G>T	ENSP00000460348.1:p.Leu2333=
NM_006445.3:c.6999G>T	NP_006436.3:p.Leu2333=
XM_024450537.1:c.6999G>T	XP_024306305.1:p.Leu2333=
NM_006445.4:c.6999G>T MANE Select	NP_006436.3:p.Leu2333=