Canonical Allele Identifier: CA397563796

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554467A>T (hg19) ; chr17:g.1651173A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651173A>T , CM000679.2:g.1651173A>T	GRCh38
NC_000017.10:g.1554467A>T , CM000679.1:g.1554467A>T	GRCh37
NC_000017.9:g.1501217A>T	NCBI36
NG_009118.1:g.38710T>A
NG_033061.1:g.3926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6608T>A	ENSP00000460849.2:p.Leu2203Gln
ENST00000703537.1:c.2536T>A
ENST00000703538.1:c.*6511T>A	ENSP00000515361.1:n.*6511T>A
ENST00000703539.1:n.3102T>A
ENST00000703540.1:c.6641T>A	ENSP00000515362.1:p.Leu2214Gln
ENST00000703541.1:c.6653T>A	ENSP00000515363.1:p.Leu2218Gln
ENST00000304992.11:c.6788T>A MANE Select	ENSP00000304350.6:p.Leu2263Gln
ENST00000304992.10:c.6788T>A	ENSP00000304350.6:p.Leu2263Gln
ENST00000571958.1:c.97T>A
ENST00000572621.5:c.6788T>A	ENSP00000460348.1:p.Leu2263Gln
ENST00000572723.1:n.777T>A
NM_006445.3:c.6788T>A	NP_006436.3:p.Leu2263Gln
XM_024450537.1:c.6788T>A	XP_024306305.1:p.Leu2263Gln
NM_006445.4:c.6788T>A MANE Select	NP_006436.3:p.Leu2263Gln