Canonical Allele Identifier: CA8271028

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 321869
• ClinVar RCV Id: RCV000322589
• dbSNP Id: rs147941247
• ExAC: 17:1554094 G / A
• gnomAD v2: 17-1554094-G-A
• gnomAD v3: 17-1650800-G-A
• gnomAD v4: 17-1650800-G-A
• MyVariant Identifiers: chr17:g.1554094G>A (hg19) ; chr17:g.1650800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650800G>A , CM000679.2:g.1650800G>A	GRCh38
NC_000017.10:g.1554094G>A , CM000679.1:g.1554094G>A	GRCh37
NC_000017.9:g.1500844G>A	NCBI36
NG_009118.1:g.39083C>T
NG_033061.1:g.4299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*2C>T	ENSP00000460849.2:n.*2C>T
ENST00000703537.1:c.2758C>T
ENST00000703538.1:c.*6733C>T	ENSP00000515361.1:n.*6733C>T
ENST00000703539.1:n.3324C>T
ENST00000703540.1:c.*2C>T	ENSP00000515362.1:n.*2C>T
ENST00000304992.11:c.*2C>T MANE Select	ENSP00000304350.6:n.*2C>T
ENST00000304992.10:c.*2C>T	ENSP00000304350.6:n.*2C>T
ENST00000571958.1:c.209C>T
ENST00000572621.5:c.*2C>T	ENSP00000460348.1:n.*2C>T
NM_006445.3:c.*2C>T	NP_006436.3:n.*2C>T
XM_024450537.1:c.*2C>T	XP_024306305.1:n.*2C>T
NM_006445.4:c.*2C>T MANE Select	NP_006436.3:n.*2C>T