Canonical Allele Identifier: CA397564154

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554576C>A (hg19) ; chr17:g.1651282C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651282C>A , CM000679.2:g.1651282C>A	GRCh38
NC_000017.10:g.1554576C>A , CM000679.1:g.1554576C>A	GRCh37
NC_000017.9:g.1501326C>A	NCBI36
NG_009118.1:g.38601G>T
NG_033061.1:g.3817G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6499G>T	ENSP00000460849.2:p.Ala2167Ser
ENST00000703537.1:c.2427G>T
ENST00000703538.1:c.*6402G>T	ENSP00000515361.1:n.*6402G>T
ENST00000703539.1:n.2993G>T
ENST00000703540.1:c.6532G>T	ENSP00000515362.1:p.Ala2178Ser
ENST00000703541.1:c.6544G>T	ENSP00000515363.1:p.Ala2182Ser
ENST00000304992.11:c.6679G>T MANE Select	ENSP00000304350.6:p.Ala2227Ser
ENST00000304992.10:c.6679G>T	ENSP00000304350.6:p.Ala2227Ser
ENST00000572621.5:c.6679G>T	ENSP00000460348.1:p.Ala2227Ser
ENST00000572723.1:n.668G>T
NM_006445.3:c.6679G>T	NP_006436.3:p.Ala2227Ser
XM_024450537.1:c.6679G>T	XP_024306305.1:p.Ala2227Ser
NM_006445.4:c.6679G>T MANE Select	NP_006436.3:p.Ala2227Ser