Canonical Allele Identifier: CA8271036

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2137868
• ClinVar RCV Id: RCV003058514
• dbSNP Id: rs776519099
• ExAC: 17:1554121 G / A
• gnomAD v2: 17-1554121-G-A
• gnomAD v3: 17-1650827-G-A
• gnomAD v4: 17-1650827-G-A
• MyVariant Identifiers: chr17:g.1554121G>A (hg19) ; chr17:g.1650827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650827G>A , CM000679.2:g.1650827G>A	GRCh38
NC_000017.10:g.1554121G>A , CM000679.1:g.1554121G>A	GRCh37
NC_000017.9:g.1500871G>A	NCBI36
NG_009118.1:g.39056C>T
NG_033061.1:g.4272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6803C>T	ENSP00000460849.2:p.Ala2268Val
ENST00000703537.1:c.2731C>T
ENST00000703538.1:c.*6706C>T	ENSP00000515361.1:n.*6706C>T
ENST00000703539.1:n.3297C>T
ENST00000703540.1:c.6836C>T	ENSP00000515362.1:p.Ala2279Val
ENST00000703541.1:c.6848C>T	ENSP00000515363.1:p.Ala2283Val
ENST00000304992.11:c.6983C>T MANE Select	ENSP00000304350.6:p.Ala2328Val
ENST00000304992.10:c.6983C>T	ENSP00000304350.6:p.Ala2328Val
ENST00000571958.1:c.182C>T
ENST00000572621.5:c.6983C>T	ENSP00000460348.1:p.Ala2328Val
NM_006445.3:c.6983C>T	NP_006436.3:p.Ala2328Val
XM_024450537.1:c.6983C>T	XP_024306305.1:p.Ala2328Val
NM_006445.4:c.6983C>T MANE Select	NP_006436.3:p.Ala2328Val