Canonical Allele Identifier: CA2635248151

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650670-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650670G>T , CM000679.2:g.1650670G>T	GRCh38
NC_000017.10:g.1553964G>T , CM000679.1:g.1553964G>T	GRCh37
NC_000017.9:g.1500714G>T	NCBI36
NG_009118.1:g.39213C>A
NG_033061.1:g.4429C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*132C>A	ENSP00000460849.2:n.*132C>A
ENST00000703537.1:c.2888C>A
ENST00000703538.1:c.*6863C>A	ENSP00000515361.1:n.*6863C>A
ENST00000703539.1:n.3454C>A
ENST00000703540.1:c.*132C>A	ENSP00000515362.1:n.*132C>A
ENST00000304992.11:c.*132C>A MANE Select	ENSP00000304350.6:n.*132C>A
ENST00000304992.10:c.*132C>A	ENSP00000304350.6:n.*132C>A
ENST00000571958.1:c.339C>A
ENST00000572621.5:c.*132C>A	ENSP00000460348.1:n.*132C>A
NM_006445.3:c.*132C>A	NP_006436.3:n.*132C>A
XM_024450537.1:c.*132C>A	XP_024306305.1:n.*132C>A
NM_006445.4:c.*132C>A MANE Select	NP_006436.3:n.*132C>A