Canonical Allele Identifier: CA397564078

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554547T>A (hg19) ; chr17:g.1651253T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651253T>A , CM000679.2:g.1651253T>A	GRCh38
NC_000017.10:g.1554547T>A , CM000679.1:g.1554547T>A	GRCh37
NC_000017.9:g.1501297T>A	NCBI36
NG_009118.1:g.38630A>T
NG_033061.1:g.3846A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6528A>T	ENSP00000460849.2:p.Glu2176Asp
ENST00000703537.1:c.2456A>T
ENST00000703538.1:c.*6431A>T	ENSP00000515361.1:n.*6431A>T
ENST00000703539.1:n.3022A>T
ENST00000703540.1:c.6561A>T	ENSP00000515362.1:p.Glu2187Asp
ENST00000703541.1:c.6573A>T	ENSP00000515363.1:p.Glu2191Asp
ENST00000304992.11:c.6708A>T MANE Select	ENSP00000304350.6:p.Glu2236Asp
ENST00000304992.10:c.6708A>T	ENSP00000304350.6:p.Glu2236Asp
ENST00000571958.1:c.17A>T
ENST00000572621.5:c.6708A>T	ENSP00000460348.1:p.Glu2236Asp
ENST00000572723.1:n.697A>T
NM_006445.3:c.6708A>T	NP_006436.3:p.Glu2236Asp
XM_024450537.1:c.6708A>T	XP_024306305.1:p.Glu2236Asp
NM_006445.4:c.6708A>T MANE Select	NP_006436.3:p.Glu2236Asp