Canonical Allele Identifier: CA397564029

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554532G>T (hg19) ; chr17:g.1651238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651238G>T , CM000679.2:g.1651238G>T	GRCh38
NC_000017.10:g.1554532G>T , CM000679.1:g.1554532G>T	GRCh37
NC_000017.9:g.1501282G>T	NCBI36
NG_009118.1:g.38645C>A
NG_033061.1:g.3861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6543C>A	ENSP00000460849.2:p.Asn2181Lys
ENST00000703537.1:c.2471C>A
ENST00000703538.1:c.*6446C>A	ENSP00000515361.1:n.*6446C>A
ENST00000703539.1:n.3037C>A
ENST00000703540.1:c.6576C>A	ENSP00000515362.1:p.Asn2192Lys
ENST00000703541.1:c.6588C>A	ENSP00000515363.1:p.Asn2196Lys
ENST00000304992.11:c.6723C>A MANE Select	ENSP00000304350.6:p.Asn2241Lys
ENST00000304992.10:c.6723C>A	ENSP00000304350.6:p.Asn2241Lys
ENST00000571958.1:c.32C>A
ENST00000572621.5:c.6723C>A	ENSP00000460348.1:p.Asn2241Lys
ENST00000572723.1:n.712C>A
NM_006445.3:c.6723C>A	NP_006436.3:p.Asn2241Lys
XM_024450537.1:c.6723C>A	XP_024306305.1:p.Asn2241Lys
NM_006445.4:c.6723C>A MANE Select	NP_006436.3:p.Asn2241Lys