Canonical Allele Identifier: CA8270997

Gene: PRPF8

Linked Data

• dbSNP Id: rs775319123
• ExAC: 17:1553996 C / A
• gnomAD v2: 17-1553996-C-A
• gnomAD v4: 17-1650702-C-A
• MyVariant Identifiers: chr17:g.1553996C>A (hg19) ; chr17:g.1650702C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650702C>A , CM000679.2:g.1650702C>A	GRCh38
NC_000017.10:g.1553996C>A , CM000679.1:g.1553996C>A	GRCh37
NC_000017.9:g.1500746C>A	NCBI36
NG_009118.1:g.39181G>T
NG_033061.1:g.4397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*100G>T	ENSP00000460849.2:n.*100G>T
ENST00000703537.1:c.2856G>T
ENST00000703538.1:c.*6831G>T	ENSP00000515361.1:n.*6831G>T
ENST00000703539.1:n.3422G>T
ENST00000703540.1:c.*100G>T	ENSP00000515362.1:n.*100G>T
ENST00000304992.11:c.*100G>T MANE Select	ENSP00000304350.6:n.*100G>T
ENST00000304992.10:c.*100G>T	ENSP00000304350.6:n.*100G>T
ENST00000571958.1:c.307G>T
ENST00000572621.5:c.*100G>T	ENSP00000460348.1:n.*100G>T
NM_006445.3:c.*100G>T	NP_006436.3:n.*100G>T
XM_024450537.1:c.*100G>T	XP_024306305.1:n.*100G>T
NM_006445.4:c.*100G>T MANE Select	NP_006436.3:n.*100G>T