Canonical Allele Identifier: CA397561943

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2137870
• ClinVar RCV Id: RCV003058515
• MyVariant Identifiers: chr17:g.1554162G>T (hg19) ; chr17:g.1650868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650868G>T , CM000679.2:g.1650868G>T	GRCh38
NC_000017.10:g.1554162G>T , CM000679.1:g.1554162G>T	GRCh37
NC_000017.9:g.1500912G>T	NCBI36
NG_009118.1:g.39015C>A
NG_033061.1:g.4231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6762C>A	ENSP00000460849.2:p.Phe2254Leu
ENST00000703537.1:c.2690C>A
ENST00000703538.1:c.*6665C>A	ENSP00000515361.1:n.*6665C>A
ENST00000703539.1:n.3256C>A
ENST00000703540.1:c.6795C>A	ENSP00000515362.1:p.Phe2265Leu
ENST00000703541.1:c.6807C>A	ENSP00000515363.1:p.Phe2269Leu
ENST00000304992.11:c.6942C>A MANE Select	ENSP00000304350.6:p.Phe2314Leu
ENST00000304992.10:c.6942C>A	ENSP00000304350.6:p.Phe2314Leu
ENST00000571958.1:c.163-22C>A
ENST00000572621.5:c.6942C>A	ENSP00000460348.1:p.Phe2314Leu
ENST00000572723.1:n.931C>A
NM_006445.3:c.6942C>A	NP_006436.3:p.Phe2314Leu
XM_024450537.1:c.6942C>A	XP_024306305.1:p.Phe2314Leu
NM_006445.4:c.6942C>A MANE Select	NP_006436.3:p.Phe2314Leu