Canonical Allele Identifier: CA8271096

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2788870
• ClinVar RCV Id: RCV003674344
• dbSNP Id: rs779108226
• ExAC: 17:1554469 C / A
• gnomAD v2: 17-1554469-C-A
• gnomAD v3: 17-1651175-C-A
• gnomAD v4: 17-1651175-C-A
• MyVariant Identifiers: chr17:g.1554469C>A (hg19) ; chr17:g.1651175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651175C>A , CM000679.2:g.1651175C>A	GRCh38
NC_000017.10:g.1554469C>A , CM000679.1:g.1554469C>A	GRCh37
NC_000017.9:g.1501219C>A	NCBI36
NG_009118.1:g.38708G>T
NG_033061.1:g.3924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6606G>T	ENSP00000460849.2:p.Leu2202=
ENST00000703537.1:c.2534G>T
ENST00000703538.1:c.*6509G>T	ENSP00000515361.1:n.*6509G>T
ENST00000703539.1:n.3100G>T
ENST00000703540.1:c.6639G>T	ENSP00000515362.1:p.Leu2213=
ENST00000703541.1:c.6651G>T	ENSP00000515363.1:p.Leu2217=
ENST00000304992.11:c.6786G>T MANE Select	ENSP00000304350.6:p.Leu2262=
ENST00000304992.10:c.6786G>T	ENSP00000304350.6:p.Leu2262=
ENST00000571958.1:c.95G>T
ENST00000572621.5:c.6786G>T	ENSP00000460348.1:p.Leu2262=
ENST00000572723.1:n.775G>T
NM_006445.3:c.6786G>T	NP_006436.3:p.Leu2262=
XM_024450537.1:c.6786G>T	XP_024306305.1:p.Leu2262=
NM_006445.4:c.6786G>T MANE Select	NP_006436.3:p.Leu2262=