Canonical Allele Identifier: CA624564854

Gene: PRPF8

Linked Data

• dbSNP Id: rs1567673382
• gnomAD v2: 17-1554045-A-T
• gnomAD v4: 17-1650751-A-T
• MyVariant Identifiers: chr17:g.1554045A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650751A>T , CM000679.2:g.1650751A>T	GRCh38
NC_000017.10:g.1554045A>T , CM000679.1:g.1554045A>T	GRCh37
NC_000017.9:g.1500795A>T	NCBI36
NG_009118.1:g.39132T>A
NG_033061.1:g.4348T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*51T>A	ENSP00000460849.2:n.*51T>A
ENST00000703537.1:c.2807T>A
ENST00000703538.1:c.*6782T>A	ENSP00000515361.1:n.*6782T>A
ENST00000703539.1:n.3373T>A
ENST00000703540.1:c.*51T>A	ENSP00000515362.1:n.*51T>A
ENST00000304992.11:c.*51T>A MANE Select	ENSP00000304350.6:n.*51T>A
ENST00000304992.10:c.*51T>A	ENSP00000304350.6:n.*51T>A
ENST00000571958.1:c.258T>A
ENST00000572621.5:c.*51T>A	ENSP00000460348.1:n.*51T>A
NM_006445.3:c.*51T>A	NP_006436.3:n.*51T>A
XM_024450537.1:c.*51T>A	XP_024306305.1:n.*51T>A
NM_006445.4:c.*51T>A MANE Select	NP_006436.3:n.*51T>A