Canonical Allele Identifier: CA397561974

Gene: PRPF8

Linked Data

• dbSNP Id: rs1911001607
• gnomAD v3: 17-1650873-G-C
• gnomAD v4: 17-1650873-G-C
• MyVariant Identifiers: chr17:g.1554167G>C (hg19) ; chr17:g.1650873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650873G>C , CM000679.2:g.1650873G>C	GRCh38
NC_000017.10:g.1554167G>C , CM000679.1:g.1554167G>C	GRCh37
NC_000017.9:g.1500917G>C	NCBI36
NG_009118.1:g.39010C>G
NG_033061.1:g.4226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6757C>G	ENSP00000460849.2:p.His2253Asp
ENST00000703537.1:c.2685C>G
ENST00000703538.1:c.*6660C>G	ENSP00000515361.1:n.*6660C>G
ENST00000703539.1:n.3251C>G
ENST00000703540.1:c.6790C>G	ENSP00000515362.1:p.His2264Asp
ENST00000703541.1:c.6802C>G	ENSP00000515363.1:p.His2268Asp
ENST00000304992.11:c.6937C>G MANE Select	ENSP00000304350.6:p.His2313Asp
ENST00000304992.10:c.6937C>G	ENSP00000304350.6:p.His2313Asp
ENST00000571958.1:c.163-27C>G
ENST00000572621.5:c.6937C>G	ENSP00000460348.1:p.His2313Asp
ENST00000572723.1:n.926C>G
NM_006445.3:c.6937C>G	NP_006436.3:p.His2313Asp
XM_024450537.1:c.6937C>G	XP_024306305.1:p.His2313Asp
NM_006445.4:c.6937C>G MANE Select	NP_006436.3:p.His2313Asp