Canonical Allele Identifier: CA397564062

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554543C>A (hg19) ; chr17:g.1651249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651249C>A , CM000679.2:g.1651249C>A	GRCh38
NC_000017.10:g.1554543C>A , CM000679.1:g.1554543C>A	GRCh37
NC_000017.9:g.1501293C>A	NCBI36
NG_009118.1:g.38634G>T
NG_033061.1:g.3850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6532G>T	ENSP00000460849.2:p.Gly2178Cys
ENST00000703537.1:c.2460G>T
ENST00000703538.1:c.*6435G>T	ENSP00000515361.1:n.*6435G>T
ENST00000703539.1:n.3026G>T
ENST00000703540.1:c.6565G>T	ENSP00000515362.1:p.Gly2189Cys
ENST00000703541.1:c.6577G>T	ENSP00000515363.1:p.Gly2193Cys
ENST00000304992.11:c.6712G>T MANE Select	ENSP00000304350.6:p.Gly2238Cys
ENST00000304992.10:c.6712G>T	ENSP00000304350.6:p.Gly2238Cys
ENST00000571958.1:c.21G>T
ENST00000572621.5:c.6712G>T	ENSP00000460348.1:p.Gly2238Cys
ENST00000572723.1:n.701G>T
NM_006445.3:c.6712G>T	NP_006436.3:p.Gly2238Cys
XM_024450537.1:c.6712G>T	XP_024306305.1:p.Gly2238Cys
NM_006445.4:c.6712G>T MANE Select	NP_006436.3:p.Gly2238Cys