Canonical Allele Identifier: CA407750151

Gene: PRPF31

Linked Data

• MyVariant Identifiers: chr19:g.54122594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54122594G>T , CM000681.2:g.54122594G>T	GRCh38
NC_000019.8:g.59317785G>T	NCBI36
NG_009759.1:g.12184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321030.9:c.420G>T MANE Select	ENSP00000324122.4:p.Lys140Asn
ENST00000321030.8:c.420G>T	ENSP00000324122.4:p.Lys140Asn
ENST00000391755.1:c.420G>T	ENSP00000375635.1:p.Lys140Asn
ENST00000419967.5:c.420G>T	ENSP00000405166.2:p.Lys140Asn
ENST00000445124.5:c.420G>T	ENSP00000408980.1:p.Lys140Asn
ENST00000445811.5:c.420G>T	ENSP00000395894.1:p.Lys140Asn
ENST00000447810.5:c.420G>T	ENSP00000395089.1:p.Lys140Asn
ENST00000466404.5:n.290G>T
ENST00000498612.1:n.203G>T
NM_015629.3:c.420G>T	NP_056444.3:p.Lys140Asn
XM_006723137.2:c.420G>T	XP_006723200.1:p.Lys140Asn
XR_935789.1:n.469G>T
XM_006723137.4:c.420G>T	XP_006723200.1:p.Lys140Asn
XR_002958293.1:n.550G>T
XR_935789.3:n.481G>T
NM_015629.4:c.420G>T MANE Select	NP_056444.3:p.Lys140Asn