Canonical Allele Identifier: CA286850044

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 3004109
• ClinVar RCV Id: RCV003865748
• dbSNP Id: rs988442173
• gnomAD v2: 17-1554589-G-A
• gnomAD v3: 17-1651295-G-A
• gnomAD v4: 17-1651295-G-A
• MyVariant Identifiers: chr17:g.1554589G>A (hg19) ; chr17:g.1651295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651295G>A , CM000679.2:g.1651295G>A	GRCh38
NC_000017.10:g.1554589G>A , CM000679.1:g.1554589G>A	GRCh37
NC_000017.9:g.1501339G>A	NCBI36
NG_009118.1:g.38588C>T
NG_033061.1:g.3804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6486C>T	ENSP00000460849.2:p.Ser2162=
ENST00000703537.1:c.2414C>T
ENST00000703538.1:c.*6389C>T	ENSP00000515361.1:n.*6389C>T
ENST00000703539.1:n.2980C>T
ENST00000703540.1:c.6519C>T	ENSP00000515362.1:p.Ser2173=
ENST00000703541.1:c.6531C>T	ENSP00000515363.1:p.Ser2177=
ENST00000304992.11:c.6666C>T MANE Select	ENSP00000304350.6:p.Ser2222=
ENST00000304992.10:c.6666C>T	ENSP00000304350.6:p.Ser2222=
ENST00000572621.5:c.6666C>T	ENSP00000460348.1:p.Ser2222=
ENST00000572723.1:n.655C>T
NM_006445.3:c.6666C>T	NP_006436.3:p.Ser2222=
XM_024450537.1:c.6666C>T	XP_024306305.1:p.Ser2222=
NM_006445.4:c.6666C>T MANE Select	NP_006436.3:p.Ser2222=