Canonical Allele Identifier: CA397564131

Gene: PRPF8

Linked Data

• dbSNP Id: rs1911041303
• MyVariant Identifiers: chr17:g.1554566A>T (hg19) ; chr17:g.1651272A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651272A>T , CM000679.2:g.1651272A>T	GRCh38
NC_000017.10:g.1554566A>T , CM000679.1:g.1554566A>T	GRCh37
NC_000017.9:g.1501316A>T	NCBI36
NG_009118.1:g.38611T>A
NG_033061.1:g.3827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6509T>A	ENSP00000460849.2:p.Leu2170Gln
ENST00000703537.1:c.2437T>A
ENST00000703538.1:c.*6412T>A	ENSP00000515361.1:n.*6412T>A
ENST00000703539.1:n.3003T>A
ENST00000703540.1:c.6542T>A	ENSP00000515362.1:p.Leu2181Gln
ENST00000703541.1:c.6554T>A	ENSP00000515363.1:p.Leu2185Gln
ENST00000304992.11:c.6689T>A MANE Select	ENSP00000304350.6:p.Leu2230Gln
ENST00000304992.10:c.6689T>A	ENSP00000304350.6:p.Leu2230Gln
ENST00000572621.5:c.6689T>A	ENSP00000460348.1:p.Leu2230Gln
ENST00000572723.1:n.678T>A
NM_006445.3:c.6689T>A	NP_006436.3:p.Leu2230Gln
XM_024450537.1:c.6689T>A	XP_024306305.1:p.Leu2230Gln
NM_006445.4:c.6689T>A MANE Select	NP_006436.3:p.Leu2230Gln