Canonical Allele Identifier: CA2635248157

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650675-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650675G>T , CM000679.2:g.1650675G>T	GRCh38
NC_000017.10:g.1553969G>T , CM000679.1:g.1553969G>T	GRCh37
NC_000017.9:g.1500719G>T	NCBI36
NG_009118.1:g.39208C>A
NG_033061.1:g.4424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*127C>A	ENSP00000460849.2:n.*127C>A
ENST00000703537.1:c.2883C>A
ENST00000703538.1:c.*6858C>A	ENSP00000515361.1:n.*6858C>A
ENST00000703539.1:n.3449C>A
ENST00000703540.1:c.*127C>A	ENSP00000515362.1:n.*127C>A
ENST00000304992.11:c.*127C>A MANE Select	ENSP00000304350.6:n.*127C>A
ENST00000304992.10:c.*127C>A	ENSP00000304350.6:n.*127C>A
ENST00000571958.1:c.334C>A
ENST00000572621.5:c.*127C>A	ENSP00000460348.1:n.*127C>A
NM_006445.3:c.*127C>A	NP_006436.3:n.*127C>A
XM_024450537.1:c.*127C>A	XP_024306305.1:n.*127C>A
NM_006445.4:c.*127C>A MANE Select	NP_006436.3:n.*127C>A