Canonical Allele Identifier: CA397564009

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651232-G-T
• MyVariant Identifiers: chr17:g.1554526G>T (hg19) ; chr17:g.1651232G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651232G>T , CM000679.2:g.1651232G>T	GRCh38
NC_000017.10:g.1554526G>T , CM000679.1:g.1554526G>T	GRCh37
NC_000017.9:g.1501276G>T	NCBI36
NG_009118.1:g.38651C>A
NG_033061.1:g.3867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6549C>A	ENSP00000460849.2:p.Asp2183Glu
ENST00000703537.1:c.2477C>A
ENST00000703538.1:c.*6452C>A	ENSP00000515361.1:n.*6452C>A
ENST00000703539.1:n.3043C>A
ENST00000703540.1:c.6582C>A	ENSP00000515362.1:p.Asp2194Glu
ENST00000703541.1:c.6594C>A	ENSP00000515363.1:p.Asp2198Glu
ENST00000304992.11:c.6729C>A MANE Select	ENSP00000304350.6:p.Asp2243Glu
ENST00000304992.10:c.6729C>A	ENSP00000304350.6:p.Asp2243Glu
ENST00000571958.1:c.38C>A
ENST00000572621.5:c.6729C>A	ENSP00000460348.1:p.Asp2243Glu
ENST00000572723.1:n.718C>A
NM_006445.3:c.6729C>A	NP_006436.3:p.Asp2243Glu
XM_024450537.1:c.6729C>A	XP_024306305.1:p.Asp2243Glu
NM_006445.4:c.6729C>A MANE Select	NP_006436.3:p.Asp2243Glu