Canonical Allele Identifier: CA8271092

Gene: PRPF8

Linked Data

• dbSNP Id: rs752271109
• ExAC: 17:1554446 A / C
• gnomAD v2: 17-1554446-A-C
• gnomAD v3: 17-1651152-A-C
• gnomAD v4: 17-1651152-A-C
• MyVariant Identifiers: chr17:g.1554446A>C (hg19) ; chr17:g.1651152A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651152A>C , CM000679.2:g.1651152A>C	GRCh38
NC_000017.10:g.1554446A>C , CM000679.1:g.1554446A>C	GRCh37
NC_000017.9:g.1501196A>C	NCBI36
NG_009118.1:g.38731T>G
NG_033061.1:g.3947T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6629T>G	ENSP00000460849.2:p.Phe2210Cys
ENST00000703537.1:c.2557T>G
ENST00000703538.1:c.*6532T>G	ENSP00000515361.1:n.*6532T>G
ENST00000703539.1:n.3123T>G
ENST00000703540.1:c.6662T>G	ENSP00000515362.1:p.Phe2221Cys
ENST00000703541.1:c.6674T>G	ENSP00000515363.1:p.Phe2225Cys
ENST00000304992.11:c.6809T>G MANE Select	ENSP00000304350.6:p.Phe2270Cys
ENST00000304992.10:c.6809T>G	ENSP00000304350.6:p.Phe2270Cys
ENST00000571958.1:c.118T>G
ENST00000572621.5:c.6809T>G	ENSP00000460348.1:p.Phe2270Cys
ENST00000572723.1:n.798T>G
NM_006445.3:c.6809T>G	NP_006436.3:p.Phe2270Cys
XM_024450537.1:c.6809T>G	XP_024306305.1:p.Phe2270Cys
NM_006445.4:c.6809T>G MANE Select	NP_006436.3:p.Phe2270Cys