Canonical Allele Identifier: CA397564137

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554569T>A (hg19) ; chr17:g.1651275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651275T>A , CM000679.2:g.1651275T>A	GRCh38
NC_000017.10:g.1554569T>A , CM000679.1:g.1554569T>A	GRCh37
NC_000017.9:g.1501319T>A	NCBI36
NG_009118.1:g.38608A>T
NG_033061.1:g.3824A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6506A>T	ENSP00000460849.2:p.Lys2169Met
ENST00000703537.1:c.2434A>T
ENST00000703538.1:c.*6409A>T	ENSP00000515361.1:n.*6409A>T
ENST00000703539.1:n.3000A>T
ENST00000703540.1:c.6539A>T	ENSP00000515362.1:p.Lys2180Met
ENST00000703541.1:c.6551A>T	ENSP00000515363.1:p.Lys2184Met
ENST00000304992.11:c.6686A>T MANE Select	ENSP00000304350.6:p.Lys2229Met
ENST00000304992.10:c.6686A>T	ENSP00000304350.6:p.Lys2229Met
ENST00000572621.5:c.6686A>T	ENSP00000460348.1:p.Lys2229Met
ENST00000572723.1:n.675A>T
NM_006445.3:c.6686A>T	NP_006436.3:p.Lys2229Met
XM_024450537.1:c.6686A>T	XP_024306305.1:p.Lys2229Met
NM_006445.4:c.6686A>T MANE Select	NP_006436.3:p.Lys2229Met