Canonical Allele Identifier: CA497291535

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1124719
• ClinVar RCV Id: RCV001456195
• dbSNP Id: rs2151108957
• gnomAD v4: 17-1650862-G-A
• MyVariant Identifiers: chr17:g.1554156G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650862G>A , CM000679.2:g.1650862G>A	GRCh38
NC_000017.10:g.1554156G>A , CM000679.1:g.1554156G>A	GRCh37
NC_000017.9:g.1500906G>A	NCBI36
NG_009118.1:g.39021C>T
NG_033061.1:g.4237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6768C>T	ENSP00000460849.2:p.Asn2256=
ENST00000703537.1:c.2696C>T
ENST00000703538.1:c.*6671C>T	ENSP00000515361.1:n.*6671C>T
ENST00000703539.1:n.3262C>T
ENST00000703540.1:c.6801C>T	ENSP00000515362.1:p.Asn2267=
ENST00000703541.1:c.6813C>T	ENSP00000515363.1:p.Asn2271=
ENST00000304992.11:c.6948C>T MANE Select	ENSP00000304350.6:p.Asn2316=
ENST00000304992.10:c.6948C>T	ENSP00000304350.6:p.Asn2316=
ENST00000571958.1:c.163-16C>T
ENST00000572621.5:c.6948C>T	ENSP00000460348.1:p.Asn2316=
ENST00000572723.1:n.937C>T
NM_006445.3:c.6948C>T	NP_006436.3:p.Asn2316=
XM_024450537.1:c.6948C>T	XP_024306305.1:p.Asn2316=
NM_006445.4:c.6948C>T MANE Select	NP_006436.3:p.Asn2316=