Canonical Allele Identifier: CA397562319

Gene: PRPF8

Linked Data

• COSMIC: COSM4889145
• MyVariant Identifiers: chr17:g.1554213C>A (hg19) ; chr17:g.1650919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650919C>A , CM000679.2:g.1650919C>A	GRCh38
NC_000017.10:g.1554213C>A , CM000679.1:g.1554213C>A	GRCh37
NC_000017.9:g.1500963C>A	NCBI36
NG_009118.1:g.38964G>T
NG_033061.1:g.4180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6711G>T	ENSP00000460849.2:p.Gln2237His
ENST00000703537.1:c.2639G>T
ENST00000703538.1:c.*6614G>T	ENSP00000515361.1:n.*6614G>T
ENST00000703539.1:n.3205G>T
ENST00000703540.1:c.6744G>T	ENSP00000515362.1:p.Gln2248His
ENST00000703541.1:c.6756G>T	ENSP00000515363.1:p.Gln2252His
ENST00000304992.11:c.6891G>T MANE Select	ENSP00000304350.6:p.Gln2297His
ENST00000304992.10:c.6891G>T	ENSP00000304350.6:p.Gln2297His
ENST00000571958.1:c.163-73G>T
ENST00000572621.5:c.6891G>T	ENSP00000460348.1:p.Gln2297His
ENST00000572723.1:n.880G>T
NM_006445.3:c.6891G>T	NP_006436.3:p.Gln2297His
XM_024450537.1:c.6891G>T	XP_024306305.1:p.Gln2297His
NM_006445.4:c.6891G>T MANE Select	NP_006436.3:p.Gln2297His