Canonical Allele Identifier: CA397572428

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1658382C>A , CM000679.2:g.1658382C>A	GRCh38
NC_000017.10:g.1561676C>A , CM000679.1:g.1561676C>A	GRCh37
NC_000017.9:g.1508426C>A	NCBI36
NG_009118.1:g.31501G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.5377-1G>T MANE Select	NP_006436.3:n.5377-1G>T
ENST00000304992.11:c.5377-1G>T MANE Select	ENSP00000304350.6:n.5377-1G>T
NM_006445.3:c.5377-1G>T	NP_006436.3:n.5377-1G>T
ENST00000304992.10:c.5377-1G>T	ENSP00000304350.6:n.5377-1G>T
ENST00000572621.5:c.5377-1G>T	ENSP00000460348.1:n.5377-1G>T
ENST00000573725.2:c.5197-1G>T	ENSP00000460849.2:n.5197-1G>T
ENST00000703537.1:c.1188-1G>T
ENST00000703538.1:c.*5100-1G>T	ENSP00000515361.1:n.*5100-1G>T
ENST00000703539.1:n.1691-1G>T
ENST00000703540.1:c.5230-1G>T	ENSP00000515362.1:n.5230-1G>T
ENST00000703541.1:c.5242-1G>T	ENSP00000515363.1:n.5242-1G>T
XM_024450537.1:c.5377-1G>T	XP_024306305.1:n.5377-1G>T