Canonical Allele Identifier: CA497291425

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554120C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650826C>A , CM000679.2:g.1650826C>A	GRCh38
NC_000017.10:g.1554120C>A , CM000679.1:g.1554120C>A	GRCh37
NC_000017.9:g.1500870C>A	NCBI36
NG_009118.1:g.39057G>T
NG_033061.1:g.4273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6804G>T	ENSP00000460849.2:p.Ala2268=
ENST00000703537.1:c.2732G>T
ENST00000703538.1:c.*6707G>T	ENSP00000515361.1:n.*6707G>T
ENST00000703539.1:n.3298G>T
ENST00000703540.1:c.6837G>T	ENSP00000515362.1:p.Ala2279=
ENST00000703541.1:c.6849G>T	ENSP00000515363.1:p.Ala2283=
ENST00000304992.11:c.6984G>T MANE Select	ENSP00000304350.6:p.Ala2328=
ENST00000304992.10:c.6984G>T	ENSP00000304350.6:p.Ala2328=
ENST00000571958.1:c.183G>T
ENST00000572621.5:c.6984G>T	ENSP00000460348.1:p.Ala2328=
NM_006445.3:c.6984G>T	NP_006436.3:p.Ala2328=
XM_024450537.1:c.6984G>T	XP_024306305.1:p.Ala2328=
NM_006445.4:c.6984G>T MANE Select	NP_006436.3:p.Ala2328=