Canonical Allele Identifier: CA397562042

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1065709
• ClinVar RCV Id: RCV001376348 ; RCV003542343
• dbSNP Id: rs121434236
• MyVariant Identifiers: chr17:g.1554178T>A (hg19) ; chr17:g.1650884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650884T>A , CM000679.2:g.1650884T>A	GRCh38
NC_000017.10:g.1554178T>A , CM000679.1:g.1554178T>A	GRCh37
NC_000017.9:g.1500928T>A	NCBI36
NG_009118.1:g.38999A>T
NG_033061.1:g.4215A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6746A>T	ENSP00000460849.2:p.His2249Leu
ENST00000703537.1:c.2674A>T
ENST00000703538.1:c.*6649A>T	ENSP00000515361.1:n.*6649A>T
ENST00000703539.1:n.3240A>T
ENST00000703540.1:c.6779A>T	ENSP00000515362.1:p.His2260Leu
ENST00000703541.1:c.6791A>T	ENSP00000515363.1:p.His2264Leu
ENST00000304992.11:c.6926A>T MANE Select	ENSP00000304350.6:p.His2309Leu
ENST00000304992.10:c.6926A>T	ENSP00000304350.6:p.His2309Leu
ENST00000571958.1:c.163-38A>T
ENST00000572621.5:c.6926A>T	ENSP00000460348.1:p.His2309Leu
ENST00000572723.1:n.915A>T
NM_006445.3:c.6926A>T	NP_006436.3:p.His2309Leu
XM_024450537.1:c.6926A>T	XP_024306305.1:p.His2309Leu
NM_006445.4:c.6926A>T MANE Select	NP_006436.3:p.His2309Leu