Canonical Allele Identifier: CA497388919

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651241-C-T
• MyVariant Identifiers: chr17:g.1554535C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651241C>T , CM000679.2:g.1651241C>T	GRCh38
NC_000017.10:g.1554535C>T , CM000679.1:g.1554535C>T	GRCh37
NC_000017.9:g.1501285C>T	NCBI36
NG_009118.1:g.38642G>A
NG_033061.1:g.3858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6540G>A	ENSP00000460849.2:p.Gln2180=
ENST00000703537.1:c.2468G>A
ENST00000703538.1:c.*6443G>A	ENSP00000515361.1:n.*6443G>A
ENST00000703539.1:n.3034G>A
ENST00000703540.1:c.6573G>A	ENSP00000515362.1:p.Gln2191=
ENST00000703541.1:c.6585G>A	ENSP00000515363.1:p.Gln2195=
ENST00000304992.11:c.6720G>A MANE Select	ENSP00000304350.6:p.Gln2240=
ENST00000304992.10:c.6720G>A	ENSP00000304350.6:p.Gln2240=
ENST00000571958.1:c.29G>A
ENST00000572621.5:c.6720G>A	ENSP00000460348.1:p.Gln2240=
ENST00000572723.1:n.709G>A
NM_006445.3:c.6720G>A	NP_006436.3:p.Gln2240=
XM_024450537.1:c.6720G>A	XP_024306305.1:p.Gln2240=
NM_006445.4:c.6720G>A MANE Select	NP_006436.3:p.Gln2240=