Canonical Allele Identifier: CA497291501

Gene: PRPF8

Linked Data

• dbSNP Id: rs1440443866
• gnomAD v2: 17-1554146-G-A
• gnomAD v4: 17-1650852-G-A
• MyVariant Identifiers: chr17:g.1554146G>A (hg19) ; chr17:g.1650852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650852G>A , CM000679.2:g.1650852G>A	GRCh38
NC_000017.10:g.1554146G>A , CM000679.1:g.1554146G>A	GRCh37
NC_000017.9:g.1500896G>A	NCBI36
NG_009118.1:g.39031C>T
NG_033061.1:g.4247C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6778C>T	ENSP00000460849.2:p.Leu2260=
ENST00000703537.1:c.2706C>T
ENST00000703538.1:c.*6681C>T	ENSP00000515361.1:n.*6681C>T
ENST00000703539.1:n.3272C>T
ENST00000703540.1:c.6811C>T	ENSP00000515362.1:p.Leu2271=
ENST00000703541.1:c.6823C>T	ENSP00000515363.1:p.Leu2275=
ENST00000304992.11:c.6958C>T MANE Select	ENSP00000304350.6:p.Leu2320=
ENST00000304992.10:c.6958C>T	ENSP00000304350.6:p.Leu2320=
ENST00000571958.1:c.163-6C>T
ENST00000572621.5:c.6958C>T	ENSP00000460348.1:p.Leu2320=
ENST00000572723.1:n.947C>T
NM_006445.3:c.6958C>T	NP_006436.3:p.Leu2320=
XM_024450537.1:c.6958C>T	XP_024306305.1:p.Leu2320=
NM_006445.4:c.6958C>T MANE Select	NP_006436.3:p.Leu2320=