Canonical Allele Identifier: CA497388898

Gene: PRPF8

Linked Data

• dbSNP Id: rs1213188051
• gnomAD v2: 17-1554490-G-A
• gnomAD v3: 17-1651196-G-A
• gnomAD v4: 17-1651196-G-A
• MyVariant Identifiers: chr17:g.1554490G>A (hg19) ; chr17:g.1651196G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651196G>A , CM000679.2:g.1651196G>A	GRCh38
NC_000017.10:g.1554490G>A , CM000679.1:g.1554490G>A	GRCh37
NC_000017.9:g.1501240G>A	NCBI36
NG_009118.1:g.38687C>T
NG_033061.1:g.3903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6585C>T	ENSP00000460849.2:p.His2195=
ENST00000703537.1:c.2513C>T
ENST00000703538.1:c.*6488C>T	ENSP00000515361.1:n.*6488C>T
ENST00000703539.1:n.3079C>T
ENST00000703540.1:c.6618C>T	ENSP00000515362.1:p.His2206=
ENST00000703541.1:c.6630C>T	ENSP00000515363.1:p.His2210=
ENST00000304992.11:c.6765C>T MANE Select	ENSP00000304350.6:p.His2255=
ENST00000304992.10:c.6765C>T	ENSP00000304350.6:p.His2255=
ENST00000571958.1:c.74C>T
ENST00000572621.5:c.6765C>T	ENSP00000460348.1:p.His2255=
ENST00000572723.1:n.754C>T
NM_006445.3:c.6765C>T	NP_006436.3:p.His2255=
XM_024450537.1:c.6765C>T	XP_024306305.1:p.His2255=
NM_006445.4:c.6765C>T MANE Select	NP_006436.3:p.His2255=