Canonical Allele Identifier: CA397562194

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2828910
• ClinVar RCV Id: RCV003686132
• MyVariant Identifiers: chr17:g.1554198T>A (hg19) ; chr17:g.1650904T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650904T>A , CM000679.2:g.1650904T>A	GRCh38
NC_000017.10:g.1554198T>A , CM000679.1:g.1554198T>A	GRCh37
NC_000017.9:g.1500948T>A	NCBI36
NG_009118.1:g.38979A>T
NG_033061.1:g.4195A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6726A>T	ENSP00000460849.2:p.Lys2242Asn
ENST00000703537.1:c.2654A>T
ENST00000703538.1:c.*6629A>T	ENSP00000515361.1:n.*6629A>T
ENST00000703539.1:n.3220A>T
ENST00000703540.1:c.6759A>T	ENSP00000515362.1:p.Lys2253Asn
ENST00000703541.1:c.6771A>T	ENSP00000515363.1:p.Lys2257Asn
ENST00000304992.11:c.6906A>T MANE Select	ENSP00000304350.6:p.Lys2302Asn
ENST00000304992.10:c.6906A>T	ENSP00000304350.6:p.Lys2302Asn
ENST00000571958.1:c.163-58A>T
ENST00000572621.5:c.6906A>T	ENSP00000460348.1:p.Lys2302Asn
ENST00000572723.1:n.895A>T
NM_006445.3:c.6906A>T	NP_006436.3:p.Lys2302Asn
XM_024450537.1:c.6906A>T	XP_024306305.1:p.Lys2302Asn
NM_006445.4:c.6906A>T MANE Select	NP_006436.3:p.Lys2302Asn