Canonical Allele Identifier: CA1825861114

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574873G= , CM000670.2:g.143574873G=	GRCh38
NC_000008.10:g.144657043G= , CM000670.1:g.144657043G=	GRCh37
NC_000008.9:g.144728186G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1582C= MANE Select	ENSP00000401508.2:p.Leu528=
ENST00000340490.7:c.1667C=	ENSP00000341136.3:p.Pro556=
ENST00000426292.7:c.1543C=	ENSP00000390949.3:p.Leu515=
ENST00000435154.7:c.*291C=	ENSP00000405670.3:n.*291C=
ENST00000449291.6:c.1582C=	ENSP00000401508.2:p.Leu528=
ENST00000460623.5:c.606C=
ENST00000464332.5:n.1126C=
ENST00000498076.5:n.361C=
ENST00000529179.1:n.366C=
NM_001286829.1:c.1543C=	NP_001273758.1:p.Leu515=
NM_145201.5:c.1582C=	NP_660202.3:p.Leu528=
XM_011517377.1:c.1319C=	XP_011515679.1:p.Pro440=
NM_001363145.1:c.1501C=	NP_001350074.1:p.Leu501=
NM_001363146.1:c.898C=	NP_001350075.1:p.Leu300=
XM_017013975.2:c.1886C=	XP_016869464.1:p.Pro629=
XM_017013976.2:c.1801C=	XP_016869465.1:p.Leu601=
XM_017013977.2:c.1586C=	XP_016869466.1:p.Pro529=
XM_017013978.2:c.1538C=	XP_016869467.1:p.Pro513=
XM_017013979.2:c.983C=	XP_016869468.1:p.Pro328=
XM_024447332.1:c.956C=	XP_024303100.1:p.Pro319=
XM_024447333.1:c.902C=	XP_024303101.1:p.Pro301=
NM_145201.6:c.1582C= MANE Select	NP_660202.3:p.Leu528=
NM_001286829.2:c.1543C=	NP_001273758.1:p.Leu515=