Canonical Allele Identifier: CA286850036

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1464973
• ClinVar RCV Id: RCV001957027
• dbSNP Id: rs368425914
• gnomAD v2: 17-1554577-C-T
• gnomAD v3: 17-1651283-C-T
• gnomAD v4: 17-1651283-C-T
• MyVariant Identifiers: chr17:g.1554577C>T (hg19) ; chr17:g.1651283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651283C>T , CM000679.2:g.1651283C>T	GRCh38
NC_000017.10:g.1554577C>T , CM000679.1:g.1554577C>T	GRCh37
NC_000017.9:g.1501327C>T	NCBI36
NG_009118.1:g.38600G>A
NG_033061.1:g.3816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6498G>A	ENSP00000460849.2:p.Thr2166=
ENST00000703537.1:c.2426G>A
ENST00000703538.1:c.*6401G>A	ENSP00000515361.1:n.*6401G>A
ENST00000703539.1:n.2992G>A
ENST00000703540.1:c.6531G>A	ENSP00000515362.1:p.Thr2177=
ENST00000703541.1:c.6543G>A	ENSP00000515363.1:p.Thr2181=
ENST00000304992.11:c.6678G>A MANE Select	ENSP00000304350.6:p.Thr2226=
ENST00000304992.10:c.6678G>A	ENSP00000304350.6:p.Thr2226=
ENST00000572621.5:c.6678G>A	ENSP00000460348.1:p.Thr2226=
ENST00000572723.1:n.667G>A
NM_006445.3:c.6678G>A	NP_006436.3:p.Thr2226=
XM_024450537.1:c.6678G>A	XP_024306305.1:p.Thr2226=
NM_006445.4:c.6678G>A MANE Select	NP_006436.3:p.Thr2226=