Canonical Allele Identifier: CA8271031

Gene: PRPF8

Linked Data

• dbSNP Id: rs745329367
• ExAC: 17:1554100 G / A
• gnomAD v2: 17-1554100-G-A
• gnomAD v4: 17-1650806-G-A
• MyVariant Identifiers: chr17:g.1554100G>A (hg19) ; chr17:g.1650806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650806G>A , CM000679.2:g.1650806G>A	GRCh38
NC_000017.10:g.1554100G>A , CM000679.1:g.1554100G>A	GRCh37
NC_000017.9:g.1500850G>A	NCBI36
NG_009118.1:g.39077C>T
NG_033061.1:g.4293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6824C>T	ENSP00000460849.2:p.Ala2275Val
ENST00000703537.1:c.2752C>T
ENST00000703538.1:c.*6727C>T	ENSP00000515361.1:n.*6727C>T
ENST00000703539.1:n.3318C>T
ENST00000703540.1:c.6857C>T	ENSP00000515362.1:p.Ala2286Val
ENST00000703541.1:c.6869C>T	ENSP00000515363.1:p.Ala2290Val
ENST00000304992.11:c.7004C>T MANE Select	ENSP00000304350.6:p.Ala2335Val
ENST00000304992.10:c.7004C>T	ENSP00000304350.6:p.Ala2335Val
ENST00000571958.1:c.203C>T
ENST00000572621.5:c.7004C>T	ENSP00000460348.1:p.Ala2335Val
NM_006445.3:c.7004C>T	NP_006436.3:p.Ala2335Val
XM_024450537.1:c.7004C>T	XP_024306305.1:p.Ala2335Val
NM_006445.4:c.7004C>T MANE Select	NP_006436.3:p.Ala2335Val