Canonical Allele Identifier: CA726482801

Gene: PRPF8

Linked Data

• dbSNP Id: rs1325715629
• MyVariant Identifiers: chr17:g.1554278T>C (hg19) ; chr17:g.1650984T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650984T>C , CM000679.2:g.1650984T>C	GRCh38
NC_000017.10:g.1554278T>C , CM000679.1:g.1554278T>C	GRCh37
NC_000017.9:g.1501028T>C	NCBI36
NG_009118.1:g.38899A>G
NG_033061.1:g.4115A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-28A>G	ENSP00000460849.2:n.6674-28A>G
ENST00000703537.1:c.2602-28A>G
ENST00000703538.1:c.*6577-28A>G	ENSP00000515361.1:n.*6577-28A>G
ENST00000703539.1:n.3168-28A>G
ENST00000703540.1:c.6707-28A>G	ENSP00000515362.1:n.6707-28A>G
ENST00000703541.1:c.6719-28A>G	ENSP00000515363.1:n.6719-28A>G
ENST00000304992.11:c.6854-28A>G MANE Select	ENSP00000304350.6:n.6854-28A>G
ENST00000304992.10:c.6854-28A>G	ENSP00000304350.6:n.6854-28A>G
ENST00000571958.1:c.162+124A>G
ENST00000572621.5:c.6854-28A>G	ENSP00000460348.1:n.6854-28A>G
ENST00000572723.1:n.843-28A>G
NM_006445.3:c.6854-28A>G	NP_006436.3:n.6854-28A>G
XM_024450537.1:c.6854-28A>G	XP_024306305.1:n.6854-28A>G
NM_006445.4:c.6854-28A>G MANE Select	NP_006436.3:n.6854-28A>G