Canonical Allele Identifier: CA397563713

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554443A>C (hg19) ; chr17:g.1651149A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651149A>C , CM000679.2:g.1651149A>C	GRCh38
NC_000017.10:g.1554443A>C , CM000679.1:g.1554443A>C	GRCh37
NC_000017.9:g.1501193A>C	NCBI36
NG_009118.1:g.38734T>G
NG_033061.1:g.3950T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6632T>G	ENSP00000460849.2:p.Phe2211Cys
ENST00000703537.1:c.2560T>G
ENST00000703538.1:c.*6535T>G	ENSP00000515361.1:n.*6535T>G
ENST00000703539.1:n.3126T>G
ENST00000703540.1:c.6665T>G	ENSP00000515362.1:p.Phe2222Cys
ENST00000703541.1:c.6677T>G	ENSP00000515363.1:p.Phe2226Cys
ENST00000304992.11:c.6812T>G MANE Select	ENSP00000304350.6:p.Phe2271Cys
ENST00000304992.10:c.6812T>G	ENSP00000304350.6:p.Phe2271Cys
ENST00000571958.1:c.121T>G
ENST00000572621.5:c.6812T>G	ENSP00000460348.1:p.Phe2271Cys
ENST00000572723.1:n.801T>G
NM_006445.3:c.6812T>G	NP_006436.3:p.Phe2271Cys
XM_024450537.1:c.6812T>G	XP_024306305.1:p.Phe2271Cys
NM_006445.4:c.6812T>G MANE Select	NP_006436.3:p.Phe2271Cys