Canonical Allele Identifier: CA397562295

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554211A>T (hg19) ; chr17:g.1650917A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650917A>T , CM000679.2:g.1650917A>T	GRCh38
NC_000017.10:g.1554211A>T , CM000679.1:g.1554211A>T	GRCh37
NC_000017.9:g.1500961A>T	NCBI36
NG_009118.1:g.38966T>A
NG_033061.1:g.4182T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6713T>A	ENSP00000460849.2:p.Leu2238Gln
ENST00000703537.1:c.2641T>A
ENST00000703538.1:c.*6616T>A	ENSP00000515361.1:n.*6616T>A
ENST00000703539.1:n.3207T>A
ENST00000703540.1:c.6746T>A	ENSP00000515362.1:p.Leu2249Gln
ENST00000703541.1:c.6758T>A	ENSP00000515363.1:p.Leu2253Gln
ENST00000304992.11:c.6893T>A MANE Select	ENSP00000304350.6:p.Leu2298Gln
ENST00000304992.10:c.6893T>A	ENSP00000304350.6:p.Leu2298Gln
ENST00000571958.1:c.163-71T>A
ENST00000572621.5:c.6893T>A	ENSP00000460348.1:p.Leu2298Gln
ENST00000572723.1:n.882T>A
NM_006445.3:c.6893T>A	NP_006436.3:p.Leu2298Gln
XM_024450537.1:c.6893T>A	XP_024306305.1:p.Leu2298Gln
NM_006445.4:c.6893T>A MANE Select	NP_006436.3:p.Leu2298Gln