Canonical Allele Identifier: CA397562341

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554217A>T (hg19) ; chr17:g.1650923A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650923A>T , CM000679.2:g.1650923A>T	GRCh38
NC_000017.10:g.1554217A>T , CM000679.1:g.1554217A>T	GRCh37
NC_000017.9:g.1500967A>T	NCBI36
NG_009118.1:g.38960T>A
NG_033061.1:g.4176T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6707T>A	ENSP00000460849.2:p.Leu2236Gln
ENST00000703537.1:c.2635T>A
ENST00000703538.1:c.*6610T>A	ENSP00000515361.1:n.*6610T>A
ENST00000703539.1:n.3201T>A
ENST00000703540.1:c.6740T>A	ENSP00000515362.1:p.Leu2247Gln
ENST00000703541.1:c.6752T>A	ENSP00000515363.1:p.Leu2251Gln
ENST00000304992.11:c.6887T>A MANE Select	ENSP00000304350.6:p.Leu2296Gln
ENST00000304992.10:c.6887T>A	ENSP00000304350.6:p.Leu2296Gln
ENST00000571958.1:c.163-77T>A
ENST00000572621.5:c.6887T>A	ENSP00000460348.1:p.Leu2296Gln
ENST00000572723.1:n.876T>A
NM_006445.3:c.6887T>A	NP_006436.3:p.Leu2296Gln
XM_024450537.1:c.6887T>A	XP_024306305.1:p.Leu2296Gln
NM_006445.4:c.6887T>A MANE Select	NP_006436.3:p.Leu2296Gln