Canonical Allele Identifier: CA252741

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 3356
• ClinVar RCV Id: RCV000003520 ; RCV001073295
• dbSNP Id: rs121434236
• MyVariant Identifiers: chr17:g.1554178T>G (hg19) ; chr17:g.1650884T>G (hg38)
• PubMed: PMID:11468273 ; PMID:20232351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650884T>G , CM000679.2:g.1650884T>G	GRCh38
NC_000017.10:g.1554178T>G , CM000679.1:g.1554178T>G	GRCh37
NC_000017.9:g.1500928T>G	NCBI36
NG_009118.1:g.38999A>C
NG_033061.1:g.4215A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6746A>C	ENSP00000460849.2:p.His2249Pro
ENST00000703537.1:c.2674A>C
ENST00000703538.1:c.*6649A>C	ENSP00000515361.1:n.*6649A>C
ENST00000703539.1:n.3240A>C
ENST00000703540.1:c.6779A>C	ENSP00000515362.1:p.His2260Pro
ENST00000703541.1:c.6791A>C	ENSP00000515363.1:p.His2264Pro
ENST00000304992.11:c.6926A>C MANE Select	ENSP00000304350.6:p.His2309Pro
ENST00000304992.10:c.6926A>C	ENSP00000304350.6:p.His2309Pro
ENST00000571958.1:c.163-38A>C
ENST00000572621.5:c.6926A>C	ENSP00000460348.1:p.His2309Pro
ENST00000572723.1:n.915A>C
NM_006445.3:c.6926A>C	NP_006436.3:p.His2309Pro
XM_024450537.1:c.6926A>C	XP_024306305.1:p.His2309Pro
NM_006445.4:c.6926A>C MANE Select	NP_006436.3:p.His2309Pro