Canonical Allele Identifier: CA8271114

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 889002
• ClinVar RCV Id: RCV001122661 ; RCV001480043
• dbSNP Id: rs200741294
• ExAC: 17:1554598 C / T
• gnomAD v2: 17-1554598-C-T
• gnomAD v3: 17-1651304-C-T
• gnomAD v4: 17-1651304-C-T
• MyVariant Identifiers: chr17:g.1554598C>T (hg19) ; chr17:g.1651304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651304C>T , CM000679.2:g.1651304C>T	GRCh38
NC_000017.10:g.1554598C>T , CM000679.1:g.1554598C>T	GRCh37
NC_000017.9:g.1501348C>T	NCBI36
NG_009118.1:g.38579G>A
NG_033061.1:g.3795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6477G>A	ENSP00000460849.2:p.Thr2159=
ENST00000703537.1:c.2405G>A
ENST00000703538.1:c.*6380G>A	ENSP00000515361.1:n.*6380G>A
ENST00000703539.1:n.2971G>A
ENST00000703540.1:c.6510G>A	ENSP00000515362.1:p.Thr2170=
ENST00000703541.1:c.6522G>A	ENSP00000515363.1:p.Thr2174=
ENST00000304992.11:c.6657G>A MANE Select	ENSP00000304350.6:p.Thr2219=
ENST00000304992.10:c.6657G>A	ENSP00000304350.6:p.Thr2219=
ENST00000572621.5:c.6657G>A	ENSP00000460348.1:p.Thr2219=
ENST00000572723.1:n.646G>A
NM_006445.3:c.6657G>A	NP_006436.3:p.Thr2219=
XM_024450537.1:c.6657G>A	XP_024306305.1:p.Thr2219=
NM_006445.4:c.6657G>A MANE Select	NP_006436.3:p.Thr2219=