Canonical Allele Identifier: CA397562014

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 30667
• ClinVar RCV Id: RCV000023644 ; RCV002513199
• dbSNP Id: rs1911001854
• MyVariant Identifiers: chr17:g.1554174C>G (hg19) ; chr17:g.1650880C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650880C>G , CM000679.2:g.1650880C>G	GRCh38
NC_000017.10:g.1554174C>G , CM000679.1:g.1554174C>G	GRCh37
NC_000017.9:g.1500924C>G	NCBI36
NG_009118.1:g.39003G>C
NG_033061.1:g.4219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6750G>C	ENSP00000460849.2:p.Arg2250Ser
ENST00000703537.1:c.2678G>C
ENST00000703538.1:c.*6653G>C	ENSP00000515361.1:n.*6653G>C
ENST00000703539.1:n.3244G>C
ENST00000703540.1:c.6783G>C	ENSP00000515362.1:p.Arg2261Ser
ENST00000703541.1:c.6795G>C	ENSP00000515363.1:p.Arg2265Ser
ENST00000304992.11:c.6930G>C MANE Select	ENSP00000304350.6:p.Arg2310Ser
ENST00000304992.10:c.6930G>C	ENSP00000304350.6:p.Arg2310Ser
ENST00000571958.1:c.163-34G>C
ENST00000572621.5:c.6930G>C	ENSP00000460348.1:p.Arg2310Ser
ENST00000572723.1:n.919G>C
NM_006445.3:c.6930G>C	NP_006436.3:p.Arg2310Ser
XM_024450537.1:c.6930G>C	XP_024306305.1:p.Arg2310Ser
NM_006445.4:c.6930G>C MANE Select	NP_006436.3:p.Arg2310Ser