Canonical Allele Identifier: CA8271103

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 724648
• ClinVar RCV Id: RCV000898597
• dbSNP Id: rs759598868
• ExAC: 17:1554505 G / A
• gnomAD v2: 17-1554505-G-A
• gnomAD v3: 17-1651211-G-A
• gnomAD v4: 17-1651211-G-A
• MyVariant Identifiers: chr17:g.1554505G>A (hg19) ; chr17:g.1651211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651211G>A , CM000679.2:g.1651211G>A	GRCh38
NC_000017.10:g.1554505G>A , CM000679.1:g.1554505G>A	GRCh37
NC_000017.9:g.1501255G>A	NCBI36
NG_009118.1:g.38672C>T
NG_033061.1:g.3888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6570C>T	ENSP00000460849.2:p.Gly2190=
ENST00000703537.1:c.2498C>T
ENST00000703538.1:c.*6473C>T	ENSP00000515361.1:n.*6473C>T
ENST00000703539.1:n.3064C>T
ENST00000703540.1:c.6603C>T	ENSP00000515362.1:p.Gly2201=
ENST00000703541.1:c.6615C>T	ENSP00000515363.1:p.Gly2205=
ENST00000304992.11:c.6750C>T MANE Select	ENSP00000304350.6:p.Gly2250=
ENST00000304992.10:c.6750C>T	ENSP00000304350.6:p.Gly2250=
ENST00000571958.1:c.59C>T
ENST00000572621.5:c.6750C>T	ENSP00000460348.1:p.Gly2250=
ENST00000572723.1:n.739C>T
NM_006445.3:c.6750C>T	NP_006436.3:p.Gly2250=
XM_024450537.1:c.6750C>T	XP_024306305.1:p.Gly2250=
NM_006445.4:c.6750C>T MANE Select	NP_006436.3:p.Gly2250=