Canonical Allele Identifier: CA270118

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54124565A>T , CM000681.2:g.54124565A>T	GRCh38
NC_000019.8:g.59319756A>T	NCBI36
NG_009759.1:g.14155A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.764A>T MANE Select	NP_056444.3:p.Gln255Leu
ENST00000321030.9:c.764A>T MANE Select	ENSP00000324122.4:p.Gln255Leu
NM_015629.3:c.764A>T	NP_056444.3:p.Gln255Leu
ENST00000321030.8:c.764A>T	ENSP00000324122.4:p.Gln255Leu
ENST00000391755.1:c.764A>T	ENSP00000375635.1:p.Gln255Leu
ENST00000419967.5:c.764A>T	ENSP00000405166.2:p.Gln255Leu
ENST00000445124.5:c.764A>T	ENSP00000408980.1:p.Gln255Leu
ENST00000445811.5:c.764A>T	ENSP00000395894.1:p.Gln255Leu
ENST00000447810.5:c.764A>T	ENSP00000395089.1:p.Gln255Leu
ENST00000466404.5:n.634A>T
ENST00000498612.1:n.547A>T
XM_006723137.2:c.764A>T	XP_006723200.1:p.Gln255Leu
XM_006723137.4:c.764A>T	XP_006723200.1:p.Gln255Leu
XR_002958293.1:n.894A>T
XR_935789.1:n.813A>T
XR_935789.3:n.825A>T