Canonical Allele Identifier: CA397563628

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 965683
• ClinVar RCV Id: RCV001240193 ; RCV001376390
• dbSNP Id: rs1911029601
• MyVariant Identifiers: chr17:g.1554417T>C (hg19) ; chr17:g.1651123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651123T>C , CM000679.2:g.1651123T>C	GRCh38
NC_000017.10:g.1554417T>C , CM000679.1:g.1554417T>C	GRCh37
NC_000017.9:g.1501167T>C	NCBI36
NG_009118.1:g.38760A>G
NG_033061.1:g.3976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6658A>G	ENSP00000460849.2:p.Asn2220Asp
ENST00000703537.1:c.2586A>G
ENST00000703538.1:c.*6561A>G	ENSP00000515361.1:n.*6561A>G
ENST00000703539.1:n.3152A>G
ENST00000703540.1:c.6691A>G	ENSP00000515362.1:p.Asn2231Asp
ENST00000703541.1:c.6703A>G	ENSP00000515363.1:p.Asn2235Asp
ENST00000304992.11:c.6838A>G MANE Select	ENSP00000304350.6:p.Asn2280Asp
ENST00000304992.10:c.6838A>G	ENSP00000304350.6:p.Asn2280Asp
ENST00000571958.1:c.147A>G
ENST00000572621.5:c.6838A>G	ENSP00000460348.1:p.Asn2280Asp
ENST00000572723.1:n.827A>G
NM_006445.3:c.6838A>G	NP_006436.3:p.Asn2280Asp
XM_024450537.1:c.6838A>G	XP_024306305.1:p.Asn2280Asp
NM_006445.4:c.6838A>G MANE Select	NP_006436.3:p.Asn2280Asp