Canonical Allele Identifier: CA397562239

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 867220
• ClinVar RCV Id: RCV001075866 ; RCV001211497
• dbSNP Id: rs121434239
• COSMIC: COSM1709548
• MyVariant Identifiers: chr17:g.1554203G>A (hg19) ; chr17:g.1650909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650909G>A , CM000679.2:g.1650909G>A	GRCh38
NC_000017.10:g.1554203G>A , CM000679.1:g.1554203G>A	GRCh37
NC_000017.9:g.1500953G>A	NCBI36
NG_009118.1:g.38974C>T
NG_033061.1:g.4190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6721C>T	ENSP00000460849.2:p.Pro2241Ser
ENST00000703537.1:c.2649C>T
ENST00000703538.1:c.*6624C>T	ENSP00000515361.1:n.*6624C>T
ENST00000703539.1:n.3215C>T
ENST00000703540.1:c.6754C>T	ENSP00000515362.1:p.Pro2252Ser
ENST00000703541.1:c.6766C>T	ENSP00000515363.1:p.Pro2256Ser
ENST00000304992.11:c.6901C>T MANE Select	ENSP00000304350.6:p.Pro2301Ser
ENST00000304992.10:c.6901C>T	ENSP00000304350.6:p.Pro2301Ser
ENST00000571958.1:c.163-63C>T
ENST00000572621.5:c.6901C>T	ENSP00000460348.1:p.Pro2301Ser
ENST00000572723.1:n.890C>T
NM_006445.3:c.6901C>T	NP_006436.3:p.Pro2301Ser
XM_024450537.1:c.6901C>T	XP_024306305.1:p.Pro2301Ser
NM_006445.4:c.6901C>T MANE Select	NP_006436.3:p.Pro2301Ser