Canonical Allele Identifier: CA8271110

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1551232
• ClinVar RCV Id: RCV002196714
• dbSNP Id: rs760241443
• ExAC: 17:1554559 G / A
• gnomAD v2: 17-1554559-G-A
• gnomAD v3: 17-1651265-G-A
• gnomAD v4: 17-1651265-G-A
• MyVariant Identifiers: chr17:g.1554559G>A (hg19) ; chr17:g.1651265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651265G>A , CM000679.2:g.1651265G>A	GRCh38
NC_000017.10:g.1554559G>A , CM000679.1:g.1554559G>A	GRCh37
NC_000017.9:g.1501309G>A	NCBI36
NG_009118.1:g.38618C>T
NG_033061.1:g.3834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6516C>T	ENSP00000460849.2:p.Pro2172=
ENST00000703537.1:c.2444C>T
ENST00000703538.1:c.*6419C>T	ENSP00000515361.1:n.*6419C>T
ENST00000703539.1:n.3010C>T
ENST00000703540.1:c.6549C>T	ENSP00000515362.1:p.Pro2183=
ENST00000703541.1:c.6561C>T	ENSP00000515363.1:p.Pro2187=
ENST00000304992.11:c.6696C>T MANE Select	ENSP00000304350.6:p.Pro2232=
ENST00000304992.10:c.6696C>T	ENSP00000304350.6:p.Pro2232=
ENST00000571958.1:c.5C>T
ENST00000572621.5:c.6696C>T	ENSP00000460348.1:p.Pro2232=
ENST00000572723.1:n.685C>T
NM_006445.3:c.6696C>T	NP_006436.3:p.Pro2232=
XM_024450537.1:c.6696C>T	XP_024306305.1:p.Pro2232=
NM_006445.4:c.6696C>T MANE Select	NP_006436.3:p.Pro2232=