Canonical Allele Identifier: CA497388927

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1493726
• ClinVar RCV Id: RCV002012713
• dbSNP Id: rs1911040337
• gnomAD v3: 17-1651259-G-C
• gnomAD v4: 17-1651259-G-C
• MyVariant Identifiers: chr17:g.1554553G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651259G>C , CM000679.2:g.1651259G>C	GRCh38
NC_000017.10:g.1554553G>C , CM000679.1:g.1554553G>C	GRCh37
NC_000017.9:g.1501303G>C	NCBI36
NG_009118.1:g.38624C>G
NG_033061.1:g.3840C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6522C>G	ENSP00000460849.2:p.Gly2174=
ENST00000703537.1:c.2450C>G
ENST00000703538.1:c.*6425C>G	ENSP00000515361.1:n.*6425C>G
ENST00000703539.1:n.3016C>G
ENST00000703540.1:c.6555C>G	ENSP00000515362.1:p.Gly2185=
ENST00000703541.1:c.6567C>G	ENSP00000515363.1:p.Gly2189=
ENST00000304992.11:c.6702C>G MANE Select	ENSP00000304350.6:p.Gly2234=
ENST00000304992.10:c.6702C>G	ENSP00000304350.6:p.Gly2234=
ENST00000571958.1:c.11C>G
ENST00000572621.5:c.6702C>G	ENSP00000460348.1:p.Gly2234=
ENST00000572723.1:n.691C>G
NM_006445.3:c.6702C>G	NP_006436.3:p.Gly2234=
XM_024450537.1:c.6702C>G	XP_024306305.1:p.Gly2234=
NM_006445.4:c.6702C>G MANE Select	NP_006436.3:p.Gly2234=