Canonical Allele Identifier: CA497389324

Gene: PRPF8

Linked Data

• dbSNP Id: rs1252637974
• gnomAD v2: 17-1554601-G-A
• gnomAD v3: 17-1651307-G-A
• gnomAD v4: 17-1651307-G-A
• MyVariant Identifiers: chr17:g.1554601G>A (hg19) ; chr17:g.1651307G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651307G>A , CM000679.2:g.1651307G>A	GRCh38
NC_000017.10:g.1554601G>A , CM000679.1:g.1554601G>A	GRCh37
NC_000017.9:g.1501351G>A	NCBI36
NG_009118.1:g.38576C>T
NG_033061.1:g.3792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6474C>T	ENSP00000460849.2:p.Phe2158=
ENST00000703537.1:c.2402C>T
ENST00000703538.1:c.*6377C>T	ENSP00000515361.1:n.*6377C>T
ENST00000703539.1:n.2968C>T
ENST00000703540.1:c.6507C>T	ENSP00000515362.1:p.Phe2169=
ENST00000703541.1:c.6519C>T	ENSP00000515363.1:p.Phe2173=
ENST00000304992.11:c.6654C>T MANE Select	ENSP00000304350.6:p.Phe2218=
ENST00000304992.10:c.6654C>T	ENSP00000304350.6:p.Phe2218=
ENST00000572621.5:c.6654C>T	ENSP00000460348.1:p.Phe2218=
ENST00000572723.1:n.643C>T
NM_006445.3:c.6654C>T	NP_006436.3:p.Phe2218=
XM_024450537.1:c.6654C>T	XP_024306305.1:p.Phe2218=
NM_006445.4:c.6654C>T MANE Select	NP_006436.3:p.Phe2218=