Canonical Allele Identifier: CA286849510

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1052514
• ClinVar RCV Id: RCV001360714
• dbSNP Id: rs925931390
• gnomAD v2: 17-1554149-G-A
• gnomAD v3: 17-1650855-G-A
• gnomAD v4: 17-1650855-G-A
• MyVariant Identifiers: chr17:g.1554149G>A (hg19) ; chr17:g.1650855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650855G>A , CM000679.2:g.1650855G>A	GRCh38
NC_000017.10:g.1554149G>A , CM000679.1:g.1554149G>A	GRCh37
NC_000017.9:g.1500899G>A	NCBI36
NG_009118.1:g.39028C>T
NG_033061.1:g.4244C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6775C>T	ENSP00000460849.2:p.Leu2259Phe
ENST00000703537.1:c.2703C>T
ENST00000703538.1:c.*6678C>T	ENSP00000515361.1:n.*6678C>T
ENST00000703539.1:n.3269C>T
ENST00000703540.1:c.6808C>T	ENSP00000515362.1:p.Leu2270Phe
ENST00000703541.1:c.6820C>T	ENSP00000515363.1:p.Leu2274Phe
ENST00000304992.11:c.6955C>T MANE Select	ENSP00000304350.6:p.Leu2319Phe
ENST00000304992.10:c.6955C>T	ENSP00000304350.6:p.Leu2319Phe
ENST00000571958.1:c.163-9C>T
ENST00000572621.5:c.6955C>T	ENSP00000460348.1:p.Leu2319Phe
ENST00000572723.1:n.944C>T
NM_006445.3:c.6955C>T	NP_006436.3:p.Leu2319Phe
XM_024450537.1:c.6955C>T	XP_024306305.1:p.Leu2319Phe
NM_006445.4:c.6955C>T MANE Select	NP_006436.3:p.Leu2319Phe