Canonical Allele Identifier: CA497388952

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651289-T-G
• MyVariant Identifiers: chr17:g.1554583T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651289T>G , CM000679.2:g.1651289T>G	GRCh38
NC_000017.10:g.1554583T>G , CM000679.1:g.1554583T>G	GRCh37
NC_000017.9:g.1501333T>G	NCBI36
NG_009118.1:g.38594A>C
NG_033061.1:g.3810A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6492A>C	ENSP00000460849.2:p.Thr2164=
ENST00000703537.1:c.2420A>C
ENST00000703538.1:c.*6395A>C	ENSP00000515361.1:n.*6395A>C
ENST00000703539.1:n.2986A>C
ENST00000703540.1:c.6525A>C	ENSP00000515362.1:p.Thr2175=
ENST00000703541.1:c.6537A>C	ENSP00000515363.1:p.Thr2179=
ENST00000304992.11:c.6672A>C MANE Select	ENSP00000304350.6:p.Thr2224=
ENST00000304992.10:c.6672A>C	ENSP00000304350.6:p.Thr2224=
ENST00000572621.5:c.6672A>C	ENSP00000460348.1:p.Thr2224=
ENST00000572723.1:n.661A>C
NM_006445.3:c.6672A>C	NP_006436.3:p.Thr2224=
XM_024450537.1:c.6672A>C	XP_024306305.1:p.Thr2224=
NM_006445.4:c.6672A>C MANE Select	NP_006436.3:p.Thr2224=