Canonical Allele Identifier: CA8271059

Gene: PRPF8

Linked Data

• dbSNP Id: rs774370084
• ExAC: 17:1554239 C / T
• gnomAD v2: 17-1554239-C-T
• gnomAD v4: 17-1650945-C-T
• MyVariant Identifiers: chr17:g.1554239C>T (hg19) ; chr17:g.1650945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650945C>T , CM000679.2:g.1650945C>T	GRCh38
NC_000017.10:g.1554239C>T , CM000679.1:g.1554239C>T	GRCh37
NC_000017.9:g.1500989C>T	NCBI36
NG_009118.1:g.38938G>A
NG_033061.1:g.4154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6685G>A	ENSP00000460849.2:p.Asp2229Asn
ENST00000703537.1:c.2613G>A
ENST00000703538.1:c.*6588G>A	ENSP00000515361.1:n.*6588G>A
ENST00000703539.1:n.3179G>A
ENST00000703540.1:c.6718G>A	ENSP00000515362.1:p.Asp2240Asn
ENST00000703541.1:c.6730G>A	ENSP00000515363.1:p.Asp2244Asn
ENST00000304992.11:c.6865G>A MANE Select	ENSP00000304350.6:p.Asp2289Asn
ENST00000304992.10:c.6865G>A	ENSP00000304350.6:p.Asp2289Asn
ENST00000571958.1:c.163-99G>A
ENST00000572621.5:c.6865G>A	ENSP00000460348.1:p.Asp2289Asn
ENST00000572723.1:n.854G>A
NM_006445.3:c.6865G>A	NP_006436.3:p.Asp2289Asn
XM_024450537.1:c.6865G>A	XP_024306305.1:p.Asp2289Asn
NM_006445.4:c.6865G>A MANE Select	NP_006436.3:p.Asp2289Asn