Canonical Allele Identifier: CA397563640

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554420A>C (hg19) ; chr17:g.1651126A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651126A>C , CM000679.2:g.1651126A>C	GRCh38
NC_000017.10:g.1554420A>C , CM000679.1:g.1554420A>C	GRCh37
NC_000017.9:g.1501170A>C	NCBI36
NG_009118.1:g.38757T>G
NG_033061.1:g.3973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6655T>G	ENSP00000460849.2:p.Trp2219Gly
ENST00000703537.1:c.2583T>G
ENST00000703538.1:c.*6558T>G	ENSP00000515361.1:n.*6558T>G
ENST00000703539.1:n.3149T>G
ENST00000703540.1:c.6688T>G	ENSP00000515362.1:p.Trp2230Gly
ENST00000703541.1:c.6700T>G	ENSP00000515363.1:p.Trp2234Gly
ENST00000304992.11:c.6835T>G MANE Select	ENSP00000304350.6:p.Trp2279Gly
ENST00000304992.10:c.6835T>G	ENSP00000304350.6:p.Trp2279Gly
ENST00000571958.1:c.144T>G
ENST00000572621.5:c.6835T>G	ENSP00000460348.1:p.Trp2279Gly
ENST00000572723.1:n.824T>G
NM_006445.3:c.6835T>G	NP_006436.3:p.Trp2279Gly
XM_024450537.1:c.6835T>G	XP_024306305.1:p.Trp2279Gly
NM_006445.4:c.6835T>G MANE Select	NP_006436.3:p.Trp2279Gly