Canonical Allele Identifier: CA497388875

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554448G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651154G>T , CM000679.2:g.1651154G>T	GRCh38
NC_000017.10:g.1554448G>T , CM000679.1:g.1554448G>T	GRCh37
NC_000017.9:g.1501198G>T	NCBI36
NG_009118.1:g.38729C>A
NG_033061.1:g.3945C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6627C>A	ENSP00000460849.2:p.Gly2209=
ENST00000703537.1:c.2555C>A
ENST00000703538.1:c.*6530C>A	ENSP00000515361.1:n.*6530C>A
ENST00000703539.1:n.3121C>A
ENST00000703540.1:c.6660C>A	ENSP00000515362.1:p.Gly2220=
ENST00000703541.1:c.6672C>A	ENSP00000515363.1:p.Gly2224=
ENST00000304992.11:c.6807C>A MANE Select	ENSP00000304350.6:p.Gly2269=
ENST00000304992.10:c.6807C>A	ENSP00000304350.6:p.Gly2269=
ENST00000571958.1:c.116C>A
ENST00000572621.5:c.6807C>A	ENSP00000460348.1:p.Gly2269=
ENST00000572723.1:n.796C>A
NM_006445.3:c.6807C>A	NP_006436.3:p.Gly2269=
XM_024450537.1:c.6807C>A	XP_024306305.1:p.Gly2269=
NM_006445.4:c.6807C>A MANE Select	NP_006436.3:p.Gly2269=