Canonical Allele Identifier: CA397564196

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554597G>C (hg19) ; chr17:g.1651303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651303G>C , CM000679.2:g.1651303G>C	GRCh38
NC_000017.10:g.1554597G>C , CM000679.1:g.1554597G>C	GRCh37
NC_000017.9:g.1501347G>C	NCBI36
NG_009118.1:g.38580C>G
NG_033061.1:g.3796C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6478C>G	ENSP00000460849.2:p.Pro2160Ala
ENST00000703537.1:c.2406C>G
ENST00000703538.1:c.*6381C>G	ENSP00000515361.1:n.*6381C>G
ENST00000703539.1:n.2972C>G
ENST00000703540.1:c.6511C>G	ENSP00000515362.1:p.Pro2171Ala
ENST00000703541.1:c.6523C>G	ENSP00000515363.1:p.Pro2175Ala
ENST00000304992.11:c.6658C>G MANE Select	ENSP00000304350.6:p.Pro2220Ala
ENST00000304992.10:c.6658C>G	ENSP00000304350.6:p.Pro2220Ala
ENST00000572621.5:c.6658C>G	ENSP00000460348.1:p.Pro2220Ala
ENST00000572723.1:n.647C>G
NM_006445.3:c.6658C>G	NP_006436.3:p.Pro2220Ala
XM_024450537.1:c.6658C>G	XP_024306305.1:p.Pro2220Ala
NM_006445.4:c.6658C>G MANE Select	NP_006436.3:p.Pro2220Ala