Canonical Allele Identifier: CA397561683

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554103T>A (hg19) ; chr17:g.1650809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650809T>A , CM000679.2:g.1650809T>A	GRCh38
NC_000017.10:g.1554103T>A , CM000679.1:g.1554103T>A	GRCh37
NC_000017.9:g.1500853T>A	NCBI36
NG_009118.1:g.39074A>T
NG_033061.1:g.4290A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6821A>T	ENSP00000460849.2:p.Tyr2274Phe
ENST00000703537.1:c.2749A>T
ENST00000703538.1:c.*6724A>T	ENSP00000515361.1:n.*6724A>T
ENST00000703539.1:n.3315A>T
ENST00000703540.1:c.6854A>T	ENSP00000515362.1:p.Tyr2285Phe
ENST00000703541.1:c.6866A>T	ENSP00000515363.1:p.Tyr2289Phe
ENST00000304992.11:c.7001A>T MANE Select	ENSP00000304350.6:p.Tyr2334Phe
ENST00000304992.10:c.7001A>T	ENSP00000304350.6:p.Tyr2334Phe
ENST00000571958.1:c.200A>T
ENST00000572621.5:c.7001A>T	ENSP00000460348.1:p.Tyr2334Phe
NM_006445.3:c.7001A>T	NP_006436.3:p.Tyr2334Phe
XM_024450537.1:c.7001A>T	XP_024306305.1:p.Tyr2334Phe
NM_006445.4:c.7001A>T MANE Select	NP_006436.3:p.Tyr2334Phe