Canonical Allele Identifier: CA497291358

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1114328
• ClinVar RCV Id: RCV001441981
• dbSNP Id: rs1367849430
• gnomAD v3: 17-1650805-G-A
• gnomAD v4: 17-1650805-G-A
• MyVariant Identifiers: chr17:g.1554099G>A (hg19) ; chr17:g.1650805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650805G>A , CM000679.2:g.1650805G>A	GRCh38
NC_000017.10:g.1554099G>A , CM000679.1:g.1554099G>A	GRCh37
NC_000017.9:g.1500849G>A	NCBI36
NG_009118.1:g.39078C>T
NG_033061.1:g.4294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6825C>T	ENSP00000460849.2:p.Ala2275=
ENST00000703537.1:c.2753C>T
ENST00000703538.1:c.*6728C>T	ENSP00000515361.1:n.*6728C>T
ENST00000703539.1:n.3319C>T
ENST00000703540.1:c.6858C>T	ENSP00000515362.1:p.Ala2286=
ENST00000703541.1:c.6870C>T	ENSP00000515363.1:p.Ala2290=
ENST00000304992.11:c.7005C>T MANE Select	ENSP00000304350.6:p.Ala2335=
ENST00000304992.10:c.7005C>T	ENSP00000304350.6:p.Ala2335=
ENST00000571958.1:c.204C>T
ENST00000572621.5:c.7005C>T	ENSP00000460348.1:p.Ala2335=
NM_006445.3:c.7005C>T	NP_006436.3:p.Ala2335=
XM_024450537.1:c.7005C>T	XP_024306305.1:p.Ala2335=
NM_006445.4:c.7005C>T MANE Select	NP_006436.3:p.Ala2335=